Diets-Jongmans Syndrome due to a Novel KDM3B Variant: The First Molecularly Confirmed Case from Turkey.

Diagnoses Live in Relationships: Bedside Sense in the Age of Precision Medicine.

Predictive Factors of Low HDL-C in Patients with Schizophrenia.

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult-Onset Acute Myeloid Leukemia.

Hypertrophic Cardiomyopathy as a Key Feature of MRAS-Related Noonan Syndrome: New Case and Comprehensive Literature Review.

The pathogenic ADAMTSL2 D167N variant causes geleophysic dysplasia-like connective tissue changes in mice.

Gender differences in the association between TyG-related index, metabolic score for insulin resistance, and overactive bladder: A cross-sectional study.

Anthropometric Measurements to Predict Metabolic Syndrome in Thai Women With Polycystic Ovary Syndrome: A Retrospective Study.

Adipose tissue distribution and metabolic profile of young individuals with turner syndrome.

Short Stature and Growth Hormone Deficiency in POMC Deficiency: An Unexpected Clinical Association.

New insights into Oliver-McFarlane syndrome: adrenocortical hypofunction and variable expressivity in a Chinese sibling pair.

Phosphoproteomics elucidates the functional impact of the PTPN11 p.Asn308Ser variant in a Noonan syndrome pedigree.

A rare case of severe short stature diagnosed after late-onset hypocalcemia: Kenny-Caffey syndrome type 2.

Case Report: Compound heterozygous mutations in the IDUA gene causing mucopolysaccharidosis type I with uterine developmental abnormality.

Iron Deficiency Anemia Among Pediatric Celiac Disease Patients at the Armed Forces Hospital Southern Region: Prevalence, Predictors, and Outcomes.

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents.

Precocious puberty: An overview of pathogenesis, clinical presentation, and management.

A Diagnostic Dilemma: Concurrent Diagnosis of Cystic Fibrosis and Definitive Kabuki Syndrome Type 1.

Body roundness index outperforms traditional obesity metrics in predicting cardiometabolic risk among children and adolescents: the EMSNGS study.

Clinical significance of low-frequency mosaic thresholds (45,X/46,XX/47,XXX) in adulthood: A case report.

[Genetic analysis of a Chinese pedigree affected with Isolated growth hormone deficiency due to variant of CHRHR gene].

Cardioacrofacial dysplasia 1: a case report and literature review.

The epidemiology of cubital tunnel syndrome: a UK Biobank case-control study.

Obesity indices as predictors of metabolic syndrome: 1-year findings from a Peruvian cohort of private educational institution workers.

Novel RAD50 variants lead to Nijmegen Breakage Syndrome-like disorder and unplanned recombinant human growth hormone treatment response.

Expanding the Coffin-Siris syndrome spectrum: genetic, dysmorphic, and endocrine findings in eight cases.

Lung-protective mechanical ventilation is not sex neutral.

Lamb-Shaffer syndrome in a Chinese adolescent: A case report.

The Associations of Anthropometric Indices With Stages and Mortality in Cardiovascular-Kidney-Metabolic Syndrome: Insights From NHANES.

Exploring the clinical and genetic spectrum of Steel syndrome: two case reports and review of the literature.

Grip and pinch strengths and its association with cardiometabolic risk in children and adolescents aged 6 to 17 years.

A New Mathematical Model to Index Body Weight in Healthy Chinese Han Adults.

SPIN4-related X-linked overgrowth in a family.

A systems perspective on rare diseases: integrating human phenotype ontology with the Anukta framework of Ayurveda.

Integrating machine learning for advanced analysis of bioelectrical impedance parameters in children with nephrotic syndrome.

Autism Spectrum Disorder in a Child with Floating-Harbor Syndrome: A Case Report.

Once-weekly somapacitan in children with Noonan syndrome: randomized controlled phase 3 trial.

Myhre Syndrome Presenting With Congenital Proximal Radioulnar Synostosis: A Case Report.

A novel variant in ARID2 causes Coffin-Siris syndrome 6 with liver cirrhosis.

DNMT3A R882C variant in a patient with a presumed pineal gland tumor, highlighting potential tumor susceptibility in Tatton-Brown-Rahman syndrome.

Long-Term Outcomes of Successful Treatment with Ruxolitinib in a Pediatric Patient with Autoimmune Lymphoproliferative Syndrome and a Signal Transducer and Activator of Transcription 3 Gain-of-Function Mutation.

Association between Body Roundness Index and infertility risk in Han Chinese women: a retrospective observational study.

The Cut-Off for Triglyceride-Glucose-Body Mass Index (TyG-BMI) and Triglyceride-Glucose-Waist Circumference Index (TyG-WC) Discriminating the Insulin Resistance Based on the SHBG Level and HOMA-IR Value in Caucasian Women with Polycystic Ovary Syndrome.

Effect of Oral Glucose Administration on Ghrelin Levels in Normal-Height Prepubertal Children Born Small for Gestational Age (SGA).

Phenotypic Variability Associated with Jagunal Homolog 1 (JAGN1) Deficiency Caused by the c.63G>T Variant.

Xp22.33 Duplication Encompassing PAR1 in a Male with Syndromic Neurodevelopmental Disorder and Tall Stature.

Emerging role of KDM5C in X-linked intellectual disability based on human genetic data and zebrafish models.

Refractory Rickets: Evaluation and Management.

Familial pneumothorax in twins with Tatton-Brown-Rahman DNMT3A overgrowth syndrome.

A Novel Association Between Mandibulofacial Dysostosis with Microcephaly and Congenital Diaphragmatic Hernia.

Nutrient and endocrine factors affecting impaired growth in pediatric mitochondrial diseases.

[Risk factor analysis of excessive resection of facet joint after large-channel spinal endoscopic depression for degenerative lumbar diseases].

Association between body roundness index and reproductive outcomes in patients with polycystic ovary syndrome: a secondary analysis based on PCOSAct.

Familial cartilage-hair hypoplasia: prenatal ultrasound features and clinical outcomes in three siblings with identical RMRP variants.

Metabolic Risk Assessment Using the Triglyceride-Glucose Index in Patients with Adrenal Insufficiency on Glucocorticoid Therapy.

Assessing the diagnostic ability of adiposity measures to identify cardiometabolic risk factors and the metabolic syndrome in South African corporate employees.

Neuronal Heterotopy in a Patient with Wiedemann-Steiner Syndrome Caused by a Truncating KMT2A Variant: Clinical and Genetic Correlations.

Childhood Obesity: A Multisystem Challenge Linking Hypertension, NAFLD, and Sleep Apnea.

A radiological case series of three siblings with osteogenesis imperfecta and shared paternal inheritance.

Effectiveness of body roundness index, relative fat mass, and body adiposity index in predicting body adiposity, insulin resistance, and metabolic syndrome in women.

Exome findings in children with short stature evaluated by growth hormone stimulation testing.

Clinical features and management of 16q24.3 microdeletion KBG syndrome: literature review.

Novel ocular feature in oculoskeletodental syndrome: high axial myopia and megalocornea in a child with a homozygous PIK3C2A variant.

A novel CEP57 gene mutation in mosaic variegated aneuploidy syndrome 2: case report.

Assessment of combined growth hormone and gonadotropin-releasing hormone analogue treatment in children with Silver-Russell syndrome.

Estimation of Transpulmonary Driving Pressure, Strain, and Lung-Specific Elastance Using Volumetric Methods in Invasively Ventilated Children-A Feasibility Study.

Diagnostic odyssey of a male with 45,X/46,XY mosaicism: case report and review of the literature.

Long-term Oral Management for 2q37 Deletion Syndrome Patient.

Association of Cardiometabolic Index with Mortality Risk in Early-Stage Cardiovascular-Kidney-Metabolic Syndrome and Its Potential Role in Metabolically Unhealthy Phenotypes: Evidence from NHANES 2007-2018.

Phenotype Variations in a Family with Various Rearrangements in the Locus of the SHOX Gene.

Determinants of Health-Related Quality of Life in Women with Turner Syndrome: The Role of Comorbidities, Hormonal Therapy and Depressive Symptoms.

Expanding the Evaluation of Skeletal Anomalies in Patients With KBG Syndrome: Recommendations for Clinical Practice.

Integrative metabolomics and proteomics reveal early cardiovascular risk signatures in PCOS female offspring.

Higher skin carotenoid levels are associated with lower risks of metabolic syndrome: a cross-sectional study in Vietnamese participants.

METS-VF outperforms traditional adiposity indices in predicting overactive bladder risk: a NHANES-based cross-sectional study.

Unraveling the Mechanistic Spectrum of Myhre Syndrome: SMAD4 Signaling Disruption, Skeletal Phenotypes, and Translational Innovation.

Growth patterns: Pathology vs. Normal variation.

Clinical Presentation and Management of Swyer Syndrome: A Case Report.

Prevalence of sarcopenia in patients with chronic intestinal failure due to short bowel syndrome.

Cerebral Calcification and Treatment-Resistant Seizures: A Rare Syndromic Presentation of Pseudohypoparathyroidism-A Case Report.

A novel homozygous ADAMTS10 frameshift variant in Weill-Marchesani syndrome in a Chinese family.

Analysis of metabolic status and risk factors of small for gestational age children with catch-up growth in East China.

Validity and reliability of a scale of activities of daily living at home in children, youth and adults with Down syndrome in Chile.

Lower Genetically Predicted Circulating Insulin-like Growth Factor-1 is Associated with a Higher Risk of Adolescent Idiopathic Scoliosis: A Mendelian Randomization Study.

PPP1R12A Mutation Presenting With Congenital Jejunal Atresia and Short Stature: A Pediatric Endocrinology Case Report.

The Metacarpophalangeal Pattern Profile: An Old Method With New Insights Into the Evaluation of Short Stature.

A novel de Novo KCNC1 mutation (c.1147 C > T) presenting with epilepsy and ADHD: a case report and literature review.

An examination of child outcomes and predictors of severity when prenatal alcohol exposure is frequent and heavy.

Clinical characterization and analysis of the POLE gene in three Chinese patients with IMAGEI syndrome.

Longitudinal functional lung imaging in children with Post-COVID-19 syndrome.

Triglyceride-glucose index and triglyceride-glucose index-related markers for identifying metabolic syndrome in Saudi Arabia.

Allogeneic Hematopoietic Cell Transplantation for Morquio A Syndrome: An International Retrospective Study.

Neonatal erythroderma and immunodysplasia: Overlap of cartilage-hair hypoplasia and Omenn syndrome.

Meier-Gorlin syndrome due to a recurrent DONSON variant in a Turkish family: first report of thumb aplasia and long-term growth data.

A Case of FAM111A-Associated Kenny-Caffey Syndrome Type 2 with New Clinical Features: Microtia, Lacunar Skull Appearance, and Arnold-Chiari Malformation.

Associations Between Serum 25-Hydroxyvitamin D Levels and Metabolic Syndrome Among Korean Adolescents: Based on the Korea National Health and Nutrition Examination Survey in 2022-2023.

Directions and Perspectives for Preventive Activities in Primary Care-Patients' Health-Promoting and Health-Risk Behaviours.

Skin Carotenoid Score as a Potential Early Biomarker of Metabolic Syndrome Risk in Adolescents.

Real-World Evidence of Growth Improvement in Children 1 to 5 Years of Age Receiving Enteral Formula Administered Through an Immobilized Lipase Cartridge.

Beyond Neurodevelopmental Delay: BICRA-Related Coffin-Siris Syndrome 12 with Severe Intestinal Dysmotility and Recurrent Pneumothorax.

Prenatal Diagnosis of a Feingold Syndrome Pregnancy Complicated with Severe Preeclampsia: A Report of a Challenging Case.

Artificial Neural Network as a Tool to Predict Severe Toxicity of Anticancer Drug Therapy in Patients with Gastric Cancer: A Retrospective Study.

Some Biomechanical and Anthropmetric Differences Between Elite Swimmers with Down Syndrome and Intellectual Disabilities.

A Rare Co-occurrence of Duchenne Muscular Dystrophy and Glycerol Kinase Deficiency Associated With Xp21 Contiguous Gene Deletion Syndrome: A Case Report.

Effectiveness of a nursing model based on traditional Chinese medicine syndrome differentiation in patients with type 2 diabetes: A retrospective cohort study.

Noonan syndrome spectrum disorders in real life: patient characteristics and response to growth hormone therapy in a genetically defined single-country multicenter cohort.

Efficacy of Recombinant Human Growth Hormone on Glucocorticoid-Induced Short Stature in Children: A Retrospective Controlled Study.

A novel compound heterozygous mutation in ADAMTS17 identified in a Chinese family with Weill-Marchesani syndrome.

Mapping the Prenatal Growth of the Mandible.

Impact of using waist-to-height ratio for diagnosing obesity in general digestive outpatient consultations.

Prospective associations of triglyceride-glucose related indices with cardiovascular disease and mortality in individuals with metabolic syndrome: evidence from the UK biobank.

Severe Short Stature, Pathological Fracture, and Avascular Necrosis Due to Prolonged Over-the-Counter Steroid Use in an Adolescent Patient.

Novel variants in STAG2 and PKD1 associate with multiple congenital malformations and autosomal dominant polycystic kidney disease in a Chinese family: A case report and literature review.

Mauriac Syndrome: Growth and Clinical Outcomes After 2.5 Years of Automated Insulin Delivery Treatment.

Advanced-Stage Gonadal Dysgerminoma in a Patient With a Previous Diagnosis of Familial Swyer Syndrome: A Very Rare Genetic Entity.

A Novel Evaluation of 24-hour Energy Metabolism in Cushing's Syndrome: The Metabolic Cost of Hypercortisolism.

Dyggve-Melchior-Clausen syndrome in three siblings: a unique case series with dual diagnosis of Down syndrome and Hirschsprung disease.

Assessment of Nutrition Quality in People With Prader-Willi Syndrome in Australia.

Prognostic effect of triglyceride glucose-related parameters on all-cause and cardiovascular mortality in individuals with cardiovascular-kidney-metabolic syndrome: evidence from international multi-cohort studies.

Analysis of dry eye syndrome incidence and prognostic factors in 778 patients following refractive corneal surgery.

Prenatal Shwachman-Diamond Syndrome: Diagnostic Challenges in Two Unrelated Cases With a Rare Clinical Presentation and Pseudogene Interference, and a Review of the Literature.

International guideline on genetic testing of children with short stature.

Diagnostic yield of genetic testing in children with short stature: a systematic review.

Structural instability impairs function of the UDP-xylose synthase 1 Ile181Asn variant associated with short-stature genetic syndrome in humans.

A study on the nutritional status and body composition of children with Hutchinson-Gilford progeria syndrome.

Clinical Anthropometry in Male Infertility: Differences Between Men With and Without Klinefelter Syndrome.

Novel characterization of MRAS mutation-associated Noonan syndrome: Mild adult-onset hypertrophic cardiomyopathy combined with infective endocarditis: A case report.

Neuropeptides and the Autonomic Nervous System in Prader-Willi Syndrome.

Evaluation of wrist radiographic indices in people with idiopathic carpal tunnel syndrome: a prospective cross-sectional study.

Triglyceride-glucose-related parameters cutoff points for predicting the prevalence of metabolic syndrome in elderly Caucasian patients with obesity.

The Association Between Height-Related Novel Anthropometric Indices and Cardiovascular Events: A Cross-Sectional Insight From the MASHAD Cohort Study.

Impact of growth hormone treatment on a 12-year-old female with newly diagnosed panhypopituitarism and distal arthrogryposis.

Comparative predictive value of anthropometric indexes for hypertension: a 15-year prospective cohort study.

Identification of an unusual variant of Fanconi-Bickel syndrome presenting as proximal tubulopathy and short stature.

Long-Term experience with growth hormone therapy in pediatric growth disorders: an analysis of the LG growth study data.

Case Reports: Exploring the Varied Presentations and Clinical Features of Carney Complex, A Detailed Report on Three Distinct Cases.

Novel variant in FGFR2 in a family with anterior segment anomalies.

Pediatric floating-harbor syndrome: clinical features and treatment outcomes in a cohort of Chinese children.

Dual-Genetic Etiology in an Atypical Dent Disease Phenotype Which Combines Features of Focal Segmental Glomerulosclerosis and Ellis-Van Creveld-Like Syndrome: A Case Report.

Ventricular arrhythmia and Noonan syndrome with leucine zipperlike transcription regulator 1 mutations: expanding the phenotype with a case report and review of the literature.

Growth Hormone Therapy in 5q35 Duplication Syndrome: Evidence From a Long-Term Follow-Up.

DXA Derived Low Bone Mass in a Cohort of Prepubertal Eastern Indian Girls With Turner Syndrome Disappeared Following Adjustment for Short Stature.

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

Cardiovascular phenotypes of children and adolescents with Turner syndrome from a single-center cohort study.

Genetic Heterogeneity Underlying Familial Short Stature.

Identification of a Novel Nonsense Mutation in the IGSF1 Gene Reveals Sex-Specific Phenotypic Variability Within a Single Family.

Bone health and body composition in Indian girls with Turner syndrome: analysis based on therapeutic interventions.

Diabetes mellitus in SHORT syndrome managed with multi-agent oral therapies: a case report and literature review.

Genotype-Phenotype Correlations in Klinefelter and Turner Syndrome: A Decade of Sex Chromosome Aneuploidy Data From a Single Academic Medical Center.

Teduglutide in pediatric patients under 10 kg with short bowel syndrome on parenteral support: An open-label study.

TRISOMY 21: development of syndrome-specific growth charts from a wide Italian cohort and validation of BMI as a predictor of increased risk of metabolic derangement.

[Clinical and genetic analysis of a Chinese pedigree affected with Vissers-Bodmer syndrome due to variant of CNOT1 gene and a literature review.].

Bathrocephaly and Serpentine Fibula as Underrated Features of Osteogenesis Imperfecta Type I: A Case Report.

Association Between Novel Inflammatory Indices and Metabolic Syndrome in Children and Adolescents with Obesity.

Diagnostic Accuracy of the Triglyceride-Glucose Derived Indices in Detecting Metabolic Syndrome in Pediatric Patients.

Genetic activation of ERK2 recapitulates core neurodevelopmental features of Rasopathy syndromes in mice.

A pediatric case of diphthamide biosynthesis 1 gene defect presenting with developmental delay, short stature, dysmorphic features, and sparse hair (Loucks-Innes syndrome): a case report.

Ultrasound Assessment of the Tibial Nerve at the Retromalleolar Level: Influence of Anthropometric Characteristics and Clinical Implications.

Case Report of a Novel EVC Gene Mutation in Ellis-van Creveld Syndrome: Implications for Pediatric Dental Management.

3-M syndrome: evolution of the phenotype over time.

Comparison of novel and traditional anthropometric indices: which is the best indicator of frailty in older adults?

Prevalence and correlates of overweight and obesity in patients with major depression accompanied by abnormal TSH levels.

Heterozygous loss of OSR2 can cause radioulnar synostosis with ancillary skeletal manifestations.

Real-World Evidence of Treatment Patterns and Costs of Turner Syndrome and Noonan Syndrome in the USA.

Resting Energy Expenditure in Adults With Williams Syndrome: Comparative Accuracy of Predictive Equations.

Novel KDM3B Variants in Two Chinese Patients With Global Developmental Delay and Autism.

C-type natriuretic peptide as mediator of growth in the absence of growth hormone: Unraveling the mystery of the growth without GH syndrome.

A Case of CSNK2A1 Gene Variant Causing Okur-Chung Syndrome and Analysis of the Clinical Phenotypic Spectrum.

Phenotypic Analysis of Embryos in a Noonan Syndrome Model Mouse With the Rit1 A57G Mutation.

Tatton-Brown-Rahman Syndrome Due to a Novel DNMT3A Variant Presenting With Autism, Attention-Deficit/Hyperactivity Disorder (ADHD), and Regression: A Saudi Case Report.

Analysing concordance between MUAC, MUACZ, and WHZ in diagnosing acute malnutrition among children under five in Somalia.

[Selection of compression-distraction device type for mandibular hypoplasia based on mandible morphometric parameters].

Children and adolescents with DiGeorge syndrome are short in early infancy but develop excess weight in adolescence: a retrospective study.

Successful kidney transplantation in a patient with late-onset type II Bartter syndrome: A rare case report.

Heterogeneity of Orodental Features in a Family with Noonan Syndrome.

Comparative analysis of the bone age of wrist bones in Chinese children with different causes of short stature and central precocious puberty.

Further evidence for a wide phenotypic and mutational spectrum of Cohen syndrome: case report and literature review.

Adolescent "Lean PCOS" Is Characterized by Higher Insulin Resistance and Adverse Adipokine Profile.

Clinical and Genotypic Insights into Turner Syndrome: Emphasis on Cardiovascular Abnormalities.

Epidural Anesthesia in a Patient With Turner Syndrome: A Case Report.

Association of adiposity indices with insulin resistance among women with polycystic ovary syndrome.

Associations between exposure to environmental pollutants, metabolic syndrome risk, and obesity-related anthropometric indices.

Clinical outcomes of exclusive enzyme therapy (laronidase) in a cohort of patients with mucopolysaccharidosis type I.

Weight-adjusted waist index outperforms other obesity indices for cardiovascular disease prediction in cardiovascular-kidney-metabolic syndrome: insights from UK biobank.

Growth and sleep outcomes after adenotonsillectomy in pediatric mild sleep-disordered breathing.

Burden of anthropometric failures and concordance of mid-upper arm circumference with weight for length z score in identifying malnutrition among under 2-year-old children in Southern India.

Mucopolysaccharidosis or Skeletal Dysplasia?: Important Clinical and Radiologic Clues for Differential Diagnosis of Based on Difficult Cases.

Short stature, optic atrophy, and Pelger-Huët anomaly (SOPH) syndrome: report of a case lacking neutrophil morphologic changes and review of literature.

Associations of 13C-Sucrose Breath Test Dynamics with Anthropometry and Demographics: A Comparison of Studies in the United Kingdom and Zambia.

Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype.

Prevalence of physically active females at risk for the female athlete triad in Spain.

Body Roundness Index Versus Body Mass Index: Differential Associations With Obstructive Sleep Apnea Syndrome and All-Cause Mortality in US Adults Aged 20 Years and Older.

Managing acute myeloid leukemia in the context of sickle cell anemia and suspected Fanconi anemia in Tanzania: a case report.

Temporal Bone CT Findings in Hajdu-Cheney Syndrome: Case Report with Review of the Literature.

EndoCompass Project: Research Roadmap for Growth Disorders.

Increased risk for severe peripheral arterial disease in Kabuki syndrome.

Hyperglycemic Hyperosmolar State as the Initial Presentation of Wolfram Syndrome: A Common Complication Revealing a Rare Disease-A Case Report.

Successful Use of Haploidentical HSCT in a Child With Schimke Immuno-Osseous Dysplasia Who Developed PTLD After Kidney Transplantation.

Delayed Diagnosis of 48XXYY Syndrome: A Case Report Highlighting the Role of G-Banding Cytogenetics.

Association of body roundness index with cardiovascular disease in early Cardiovascular-Kidney-Metabolic syndrome stage 0-3: mediation by the triglyceride-glucose index in a national cohort study.