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

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.

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

Cardioacrofacial dysplasia 1: a case report and literature review.

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

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

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

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

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

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.

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

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

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

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.

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.

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.

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

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.

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

Genetic Heterogeneity Underlying Familial Short Stature.

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

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

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

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

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.

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

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

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

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

Severe Neurodevelopmental Disorder due to Klinefelter Syndrome and CACNA1C Variant: A Case Report.

3M syndrome in Saudi Arabia: a case series study and literature review.

3M syndrome with novel CUL7 variants in a Chinese patient: a case report.

KBG syndrome complicated with chylothorax in a newborn: a case report and literature review.

An Intronic Variant in CDKN1C Gene Causing IMAGe Syndrome in an Iranian Girl.

Spinal Anomalies in MURCS Association: A Rare Case Report and Systematic Review of the Literature.

[Clinical features and variant spectrum of FGFR3-related disorders].

Growth Standards for Children With Smith-Magenis Syndrome (SMS).

Beyond the usual spectrum: Atrial septal defect in a Marfan syndrome patient with severe aortic pathologies.

Novel Filamin genes variants implicated in skeletal dysplasias: integrated structural modeling and in silico functional characterization.

Genetic heterogeneity in pediatric short stature: insights from whole exome sequencing and snp- array analyses in a Turkish cohort.

Familial 3M Syndrome - as an Example of Diagnostic Difficulties in Rare Genetic Syndromes.

A novel brachydactyly type E syndrome caused by variants in helix 8 of the PTH1R.

Rare features in Feingold syndrome type 1.

FLNA Variants Related to Melnick-Needles Syndrome: Two Mexican Case Reports and a Comprehensive Variant Review.

Concordant X-linked hypophosphatemic rickets in monozygotic twins: diagnostic challenges and a novel genetic insight.

Approach to the Patient With Turner Syndrome.

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.

Identification of a novel de novo AFF4 variant (c.778A>G) associated with CHOPS syndrome.

Clinical and genetic characterization of Lenz-Majewski syndrome with a PTDSS1 variant: a case report and literature review.

Expanding the Phenotypic Spectrum Associated with DPH5-Related Diphthamide Deficiency.

AUTS2 disruption underlies radioulnar synostosis and skeletal dysmorphogenesis: evidence from four unrelated cases.

Genetics of short stature.

Prenatal and postnatal findings in cerebellofaciodental syndrome: a rare genetic disorder.

Early-Onset Retinal Dysfunction Associated with Novel WDR19 Variants in Sensenbrenner Syndrome.

Validation and applicability of appendicular skeletal muscle mass estimation equations in a geriatric hospital setting.

Genetic Diseases Mimicking Rheumatic Disorders: Insights From Southeastern Turkey.

Identification of a Fetal De Novo Splice Variant in ARCN1 Associated With Growth and Skeletal Abnormalities.

A homozygous frameshift variant in the CILK1 gene causes cranioectodermal dysplasia.

Endemic congenital iodine deficiency syndrome from a 19th to 20th century poorhouse cemetery in Riggisberg, Switzerland.

Serum Markers of Bone Turnover and Bone Remodeling in Children with Noonan Syndrome: Genotype-Phenotype Correlation.

PIK3C2A-Related Clinical Phenotype and Cellular Charaterization Linked to Functional SHH Primary Cilia Defect.

[Clinical and genetic investigation of 4 children with microdeletion KBG syndrome].

A Rare Case of Pyknodysostosis (Toulouse-Lautrec Syndrome): Dental Perspectives on Comprehensive Management.

Rothmund-Thomson Syndrome Type 2 in an African American/Puerto Rican Child Demonstrates Diagnostic Challenges in Diverse Population.

Ellis-Van Creveld Syndrome with Severe Mitral Valve Insufficiency Caused by a Homozygous Intragenic Deletion of the EVC Gene.

Genotypic and Phenotypic Landscape of KBG Syndrome: A Study of 23 Turkish Individuals.

A Rare Presentation of HIST1H1E Syndrome with Short Stature and Multiple Pituitary Hormone Deficiencies.

ACTC1 Variants Result in Isolated and Syndromic Cardiac Phenotypes.

Skeletal growth and development dictate the processes of vertebral fracture in the pediatric spine; a review emphasizing fracture biomechanics of the vertebral body during the period of skeletal immaturity.

A Rare Case of Morquio Syndrome in Palestine: Clinical, Radiological, and Genetic Insights.

Update on the Clinical and Molecular Characterization of Noonan Syndrome and Other RASopathies: A Retrospective Study and Systematic Review.

Aortic root dilatation and mitral valve prolapse in three siblings with dental anomalies and short stature syndrome due to a homozygous novel LTBP3 variant.

[Relationship between skeletal muscle mass and strength with metabolic syndrome in children].

Clinical and genetic spectrums of Mucopolysaccharidosis type IV in Duhok city, Kurdistan region, Iraq.

C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorder.

Short stature, brachydactyly and joint contractures associated with novel FBN2 variants in two families.

A New Case with Weaver Syndrome: Delineating Natural Course and Growth Pattern, Further Clarifying Clinical Phenotype.

Aarskog Syndrome: Deep Phenotyping and Genomic Landscape of a New Cohort Including Adult Patients.

Spondylocostal dysostosis: A rare and remarkable syndrome.

Variants in WASHC3, a component of the WASH complex, cause short stature, variable neurodevelopmental abnormalities, and distinctive facial dysmorphism.

A de novo ZMYM2 gene variant associated to a Rett-like phenotype: Case report of a new phenotype and review of the literature.

Dyggve-Melchior-Clausen Syndrome With Celiac Disease: A Rare Entity.

Hand X-rays findings and a disease screening for Turner syndrome through deep learning model.

Nucleoredoxin regulates WNT signaling during pituitary stem cell differentiation.

Novel estrogen receptor-α gene inactivating missense variant in a woman: Therapeutic challenge and long-term follow-up data.

KBG syndrome: report and follow-up on three unrelated patients observed at different ages.

A scarce case: Co-occurrence of neurofibromatosis type 1 and Klinefelter syndrome.

De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome.

Key Clinical and X-Ray Characteristics for the Diagnosis of Kenny-Caffey Syndrome Types 1 and 2.

Impact of pubertal timing on growth progression and final height in subjects affected by RASopathies.

Long-term outcomes of enzyme replacement therapy from a large cohort of Korean patients with mucopolysaccharidosis IVA (Morquio A syndrome).

Pseudohypoparathyroidism type 1A presenting as short stature and congenital hypothyroidism.

Evolution of sleep disordered breathing in infants with achondroplasia.

Identification of a novel frameshift variation in ANKRD11: a case report of KBG syndrome.

Obesity and metabolic syndrome in a diverse pediatric kidney transplant population: which anthropometric measure best predicts arterial stiffness?

Ellis-van Creveld Syndrome: A Rare Case Report with Emphasis on Skeletal Manifestations.

Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations.

Kenny-Caffey Syndrome Type 2 (KCS2): A New Case Report and Patient Follow-Up Optimization.

Relationships between trunk tissue distribution, metabolic risk factors and physical performance in young people-A pilot study.

GMNN and DLL1 mutation-related spondylocarpotarsal synostosis: a case report.

Clinical and molecular spectrum along with genotype-phenotype correlation of 25 patients diagnosed with 3 M syndrome: a study from Turkey.

Does It Run in Your Family? Inherited Truncating PSMD12 Variants Broaden the Phenotypic Spectrum of Stankiewicz-Isidor Syndrome.

Compound Heterozygous Variants in the IFT140 Gene Associated with Skeletal Ciliopathies.

Impaired Muscle Parameters in Individuals With Premature Ovarian Insufficiency: A Pilot Study.

KBTBD2 controls bone development by regulating IGF-1 signaling during osteoblast differentiation.

A clinical and molecular characterization of a Pakistani family with multicentric osteolysis, nodulosis and arthropathy (MONA) syndrome.

Structural Variants in COL1A1 and COL1A2 in Osteogenesis Imperfecta.

Kabuki syndrome associated with type 1 diabetes mellitus: report of three cases.

Pycnodysostosis: Clinical Insights From Two Siblings.

Fibrillin-1 Gene Variant p.Gly1754Ser Associated With Weill-Marchesani Syndrome Type 2: A Case Report.

A Rare Case of Dyggve-Melchior-Clausen Syndrome: A Case Report.

Burosumab, a Transformational Treatment in a Pediatric Patient With Cutaneous-Skeletal Hypophosphatemia Syndrome.

Molecular diagnosis of patients with syndromic short stature identified by trio whole-exome sequencing.

KBG Syndrome in 16 Indian Individuals.

Hematopoietic stem cell transplantation in children with mucopolysaccharidosis IVA: single center experience.

Rapid identification of primary atopic disorders (PAD) by a clinical landmark-guided, upfront use of genomic sequencing.

49,XXXXY PATIENT AND INCIDENTAL FINDING OF LOW LEVEL MOSAIC 45,X IN THE MOTHER.

A Recurrent c.416C>T Variant in the B3GAT3 Gene in the Turkish Population: Report of Two Siblings and Expanding the Clinical Spectrum.

Clinical, myopathological, and genetic features of two Chinese families with Andersen-Tawil syndrome.

Bi-Allelic Splicing Variant, c.153-2A > C in TOMM7 Is Associated With Leigh Syndrome.

A case report of Tumor-Induced Osteomalacia (TIO) caused by central giant cell granuloma.

Weight-adjusted waist index predicts metabolic syndrome in Caucasian patients with obesity.

Musculoskeletal Issues in Children and Adolescents: Genetic Musculoskeletal Disorders.

Clinical and Genetic Insights into Desbuquois Dysplasia: Review of 111 Case Reports.

Bruck syndrome in pregnancy.

Association of food group with the changes in sarcopenia parameters over 1 year in older outpatients in a frailty clinic.

Atypical presentation of ACCES syndrome resembling dominant Spondyloepiphyseal dysplasia tarda.

Insights into the ANKRD11 variants and short-stature phenotype through literature review and ClinVar database search.

Loss of the long form of Plod2 phenocopies contractures of Bruck syndrome-osteogenesis imperfecta.

A novel GNAS mutation in pseudohypoparathyroidism type 1a with articular flexion deformity: A case report.

Cephalometric Evaluation of Children with Short Stature of Genetic Etiology: A Review.

Endodontic management of taurodontism in a patient with Morquio syndrome: Case report of a 16-year-old girl.

Skeletal muscle vulnerability in a child with Pitt-Hopkins syndrome.

Impact of sarcopenia on clinical outcomes in pediatric chronic liver disease post-liver transplantation: prevalence and implications.

PTPN11 and FLNA variants in a boy with ambiguous genitalia, short stature, and non-specific dysmorphic features.

Phenotypic and mutational spectrum of 17 Chinese patients with Menkes Disease.

A novel small deletion in CWC27 gene associated with CWC27-related spliceosomeopathy.

Floating-Harbor Syndrome: A Systematic Literature Review and Case Report.

Deletion of Trps1 regulatory elements recapitulates postnatal hip joint abnormalities and growth retardation of Trichorhinophalangeal syndrome in mice.

Molecular mechanisms of human overgrowth and use of omics in its diagnostics: chances and challenges.

Spondyloenchondrodysplasia With Immune Dysregulation, but Without Skeletal Dysplasia, in a Six-Year-Old Boy: A Case Report.

Spondyloocular Syndrome: First Case of Rare Osseous and Ocular Syndrome from India with Novel Mutation and Expanded Phenotypic Spectrum.

Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.

Clinical and molecular characteristics of Korean patients with Kabuki syndrome.

Serum branch chain amino acids and aromatic amino acids ratio and metabolic risks in Koreans with normal-weight or obesity: a cross-sectional study.

Vosoritide treatment for children with hypochondroplasia: a phase 2 trial.

Novel biallelic PISD missense variants cause spondyloepimetaphyseal dysplasia with disproportionate short stature and fragmented mitochondrial morphology.

Clinical and genetic investigation of 14 families with various forms of short stature syndromes.

Nutritional and Body Composition Changes in Paediatric β-Thalassemia Patients Undergoing Hematopoietic Stem Cell Transplantation: A Retrospective Study Using Bioelectrical Impedance Analysis.

Evidence That Skeletal Muscles Modulate HDL-Cholesterol in Metabolic Healthy Young Adults.

Clinical and Molecular Characterization of a Novel Homozygous Frameshift Variant in AEBP1-Related Classical-like Ehlers Danlos Syndrome Type 2 with Comparison to Previously Reported Rare Cases.

Macular hypoplasia and high myopia in 48, xxyy syndrome: a unique case of 48, xxyy syndrome that presents with high myopia and macular dysplasia.

Characteristic phenotypes of ADH5/ALDH2 deficiency during childhood.

Growth Charts for Shwachman-Diamond Syndrome at Ages 0 to 18 Years.

Further delineation of phenotype and genotype of Kenny-Caffey syndrome type 2 (phenotype and genotype of KCS type 2).

Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1: A single-center case series of 15 patients and seven novel TRPS1 variants.

Body composition parameters and sarcopenia in adults with Down syndrome: a case-control study.

ORAI1 inhibition as an efficient preclinical therapy for tubular aggregate myopathy and Stormorken syndrome.

Aggrecan-related bone disorders; a novel heterozygous ACAN variant associated with spondyloepimetaphyseal dysplasia expanding the phenotypic spectrum and review of literature.

Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome.

Becoming a World Champion Powerlifter at 71 Years of Age: It Is Never Too Late to Start Exercising.

Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome.

Weyers Acrofacial Dysostosis: A Case Report.

FGD1-related Aarskog-Scott syndrome: Identification of four novel variations and a literature review of clinical and molecular aspects.

Novel OBSL1 Variant in a Chinese Patient with 3M Syndrome: The c.458dupG Mutation May Be a Potential Hotspot Mutation in the Chinese Population.

Novel Genetic and Phenotypic Expansion in Ameliorated PUF60-Related Disorders.

Lambdoid Suture Defect in a 12-year-old Neurofibromatosis Patient.

Growth disorders caused by variants in epigenetic regulators: progress and prospects.

Expanding the phenotypic spectrum of LIG4 pathogenic variations: neuro-histopathological description of 4 fetuses with stenosis of the aqueduct.

Diabetes mellitus in Kabuki syndrome 1 on a background of post-transplant diabetes mellitus.

A new phenotype of EVEN-PLUS syndrome in a Chinese family and literature review.

Review of published 467 achondroplasia patients: clinical and mutational spectrum.

Use of bioimpedance in prevention of sarcopenia in the elderly.

CT-based screening of sarcopenia and its role in cachexia syndrome in pancreatic cancer.

Association of Fat Mass and Skeletal Muscle Mass with Cardiometabolic Risk Varied in Distinct PCOS Subtypes: A Propensity Score-Matched Case-Control Study.

Case report: Sagliker syndrome in the patient with recurrent tertiary hyperparathyroidism due to intrathyroidal parathyroid carcinoma.

Ciliopathy due to POC1A deficiency: clinical and metabolic features, and cellular modeling.

Biallelic SOX8 Variants Associated With Novel Syndrome With Myopathy, Skeletal Deformities, Intellectual Disability, and Ovarian Dysfunction.

Schwartz-Jampel Syndrome Type 1: Compound Heterozygosity of Two Novel Variants.

Growth, body composition, and endocrine-metabolic profiles of individuals with Kleefstra syndrome provide directions for clinical management and translational studies.

Retinitis pigmentosa with or without skeletal abnormalities due to homozygous mutations in the CWC27 gene: A case report.

Computed tomography evaluation of skeletal muscle quality and quantity in people with morbid obesity with and without metabolic abnormality.

Lichen sclerosus associated with Turner syndrome treated with photodynamic therapy: A case report.

Exercise-Induced Transient Oxidative Stress Is Mitigated in Down Syndrome: Insights About Redox Balance and Muscle Strength.

Role of genetic investigation in the diagnosis of short stature in a cohort of Italian children.

Subluxated cataractous lens and high myopia: An uncommon association in an achondroplasia child.

Relationship among Osteoporosis, Sarcopenia, Locomotive Syndrome, and Spinal Kyphosis in Older Individuals Living in a Local Mountain Area.