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

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

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

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

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

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

Double Mosaicism in Xia-Gibbs Syndrome.

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

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

Clinical Insights From a Case of Sifrim-Hitz-Weiss Syndrome With a CHD4 Variant: Expanding the Phenotypic Spectrum and Its Response to Growth Hormone Therapy.

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

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

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

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

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.

Etiology of Infantile Epileptic Spasms Syndrome and Clinical Response With Vigabatrin as the First Treatment.

Chromosome engineering to correct a complex rearrangement on Chromosome 8 reveals the effects of 8p syndrome on gene expression and neural differentiation.

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

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

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.

Prenatally Diagnosed De Novo Interstitial Duplication in 2p21p24.3 with Unique Manifestations: Case Report.

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

Neurodevelopmental outcomes in children and adults associated with antenatal corticosteroid exposure: a narrative review.

Sexual Health and Transition Needs in an Adolescent Girl With Attention-deficit Hyperactivity Disorder and Smith-magenis Syndrome.

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

A new case of Rafiq syndrome with coexisting thyroid dyshormonogenesis type 6 in a Chinese patient: case report and literature review.

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

Rare co-existence of 15q26 deletion syndrome and lymphangioleiomyomatosis: diagnostic and therapeutic challenge.

Incidence and multisystem preadolescent complications of Turner syndrome: a nationwide study.

A Novel De Novo KDM3B Variant in the Youngest Reported Male Patient With Diets-Jongmans Syndrome and Facial Asymmetry.

Neurodevelopmental disorder-linked Argonaute mutations permit delayed RISC formation and unusual shortening of miRNAs by 3'→5' trimming.

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

Clinical and Genetic Characterization of Noonan Syndrome in a Romanian Cohort from Transylvania: Details on PTPN11 c.922A>G Variant and Phenotypic Spectrum.

Renal Hypoplasia and Oligomeganephronia in a Fetus with Wolf-Hirschhorn Syndrome.

Syndrome of the Month: An Update on Smith-Kingsmore Syndrome: Characterization of Developmental Milestones and a Review of the Literature.

Early surgical intervention for neonatal syndactyly in amniotic band sequence.

18p Deletion Syndrome Associated with Type 1 Diabetes and Hashimoto's Thyroiditis: A Case Report on Autoimmune Disorders and Genetic Factors.

First description of co-occurrence of 49,XXXXY and X-linked Cornelia de Lange syndrome: case report.

Effective Conservative Management of Severe Scoliosis in a Girl with Prader-Willi Syndrome: A 20-Year Case Study Follow-Up.

7p21.1 Microdeletion Encompassing the ACTB Gene in a Japanese Child: Longitudinal Clinical and Neuroimaging Findings.

Non-RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome.

ITCH Deficiency Causing Immunodeficiency and Immune Dysregulation.

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

Necrotizing Enterocolitis Due to Mesenteric Artery Thrombosis in a Patient with Craniofrontonasal Dysplasia: Casual or Causal Association?

A Complex Case of Koolen-De Vries Syndrome Associated with Hypopituitarism and Type 1 Diabetes Mellitus.

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X-Linked Neurodevelopmental Disorder.

Wiedemann-Steiner syndrome: description of genetic profiles and clinical phenotypes of 10 Korean pediatric patients.

A case of ADH5/ALDH2 deficiency combined with 3q29 microduplication syndrome.

Delayed Presentation With Atypical Extrathyroidal Manifestations of Sporadic Non-autoimmune Congenital Hyperthyroidism: A Case Report and Literature Review.

Late Diagnosis of Prader-Willi Syndrome in an Adolescent With Significant Complications of Type 2 Diabetes.

Genomic Insights into Short Stature in Children Born Small for Gestational Age: A Korean Multicenter Exome Study.

The Opposite Phenotype of Sotos Syndrome: 5q35.2q35.3 Microduplication Syndrome.

Novel Phenotypic Insights into the IDS c.817C>T Variant in Mucopolysaccharidosis Type II from Newborn Screening Cohorts.

Clinical and genetic characteristics of Cornelia de Lange syndrome in pediatric patients.

[Clinical characteristics analysis of mitochondrial short-chain enoyl-CoA hydratase 1 deficiency with ECHS1 gene c.489G>A compound heterozygous variants].

Noonan syndrome with PTPN11 gene variant presenting as isolated short stature: a case report.

The deficiency of DIP2C leads to congenital heart defects in patients with 10p15.3 microdeletion syndrome.

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

Noonan Syndrome and Rett Syndrome in An 8-Year-Old Girl With A Tectal Neoplasm.

Rapid Electroclinical Evolution in HECW2-Related Developmental and Epileptic Encephalopathy: Report of a Likely Splicing Variant With Familial Transmission.

Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay.

Case Report: Identification of a novel hemizygous missense RPL10 gene variant in two unrelated patients.

Further delineation of ERF-related Chitayat syndrome.

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

Novel heterozygous mutation in MYH3 causes contractures, pterygia, and spondylocarpostarsal fusion syndrome 1: A case report.

Trisomy 5p: Long Recognized, Rarely Published- Three New Cases and Review of the Literature.

Expanding the Clinical Phenotype Associated with the NIN Gene; Report of a Patient with Short Stature, Microcephaly and Hearing Loss.

Clinical and molecular results in 15 Turkish patients with Wiedemann-Steiner syndrome: identification of eight novel KMT2A variants and a case of dual molecular diagnosis in the CSNK2A1.

Clinician-Based Functional Scoring and Genomic Insights for Prognostic Stratification in Wolf-Hirschhorn Syndrome.

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

Short- and Long-Term Consequences of Late-Preterm and Early-Term Birth.

Rare variants in BMAL1 are associated with a neurodevelopmental syndrome.

An Overview of Recent Advances and Clinical Applications of Exon Skipping and Splice Modulation for Muscular Dystrophy and Various Genetic Diseases.

18q Deletion (de Grouchy Syndrome) in Rural Romania: A Case Report and Healthcare System Challenges.

Identifying a novel SRCAP variant in floating-harbor syndrome and prenatal genetic diagnosis in this Chinese family: A case report.

A Novel SON Gene Variant Associated with Rare Clinical Features in ZTTK Syndrome: A Case Report and Literature Review.

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

Clinical Characteristics of KMT2A Gene-Related Wiedemann-Steiner Syndrome and Progress in Recombinant Human Growth Hormone Therapy for Short-Stature Children.

Infantile epileptic spasm syndrome: predictors of short- and long-term outcomes.

A Clinical Study of Nine Patients With ReNU Syndrome.

First Report of a Novel ZNF462 Variant Linked to Weiss-Kruszka Syndrome and Congenital Diaphragmatic Hernia: Insights into Potential Additional Malformations.

Identification of De Novo Chromosomal Translocations Disrupting NIPBL in a Patient With Cornelia de Lange Syndrome by Full Genome Analysis.

Gestational saccharin consumption disrupts gut-brain axis glucose homeostasis control in adolescent offspring rats in a sex-dependent manner.

CHARGE Syndrome in a Six-Month-Old Male Infant: A Case Report.

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

Clinical, metabolic, and genetic characteristics of 42 children with mitochondrial short-chain enoyl-CoA hydratase 1 deficiency in China.

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

Deficiency in the conserved ECHS1 gene causes Leigh syndrome by impairing mitochondrial respiration efficiency and suppressing ADRB2-PKA signaling.

Genotype-phenotype correlations and phenotypic expansion in a case series of ReNU syndrome associated with RNU4-2 variants.

Compassionate Use of Osocimab in Preventing Thrombotic Complications Without Incremental Bleeding: A Case Report.

Deep clinical and genetic analysis of 17p13.3 region: 38 pediatric patients diagnosed using next-generation sequencing and literature review.

Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder.

Siblings with a Homozygous Variant in the NHP2 Gene: A Case Report and Review of Literature.

Novel biallelic NUP107 variants affect the nuclear pore complex and expand the clinical spectrum to include brain malformations.

Endocrine-disrupting chemicals and reproductive health: With focus on the developmental window of susceptibility.

Report on Witteveen-Kolk syndrome caused by large fragment deletion in the 15q24.1 - q24.2 region in infants with early onset and literature review.

Myoclonic Dystonia: A Common Phenomenology in the Pleomorphic Movements of Angelman Syndrome.

Homozygous variants in EIF3K associated with neurodevelopmental delay, microcephaly, and growth retardation.

RNA sequencing driven diagnosis expands the phenotypic spectrum of NBAS deficiency.

Anesthesia management for dental procedures in a patient with 1p36 deletion syndrome: a case report.

Classic Prader-Willi Syndrome Phenotype Caused by an Atypical Deletion in the 15q11 Region Not Involving the SNORD Genes.

Smith-Lemli-Opitz Syndrome: Oral Characteristics and Risk Factors for Caries Development.

Expanding the Phenotypic Spectrum of DPH2 -Related Disorder.

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

[Clinical characteristics analysis of children with Noonan-like syndrome with loose anagen hair].

ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature.

An Unusual Presentation of Costello Syndrome in a Boy with Precocious Puberty and Chiari I Malformation: A Case Report.

ATP1A3 Variants, Variably Penetrant Short QT Intervals, and Lethal Ventricular Arrhythmias.

Cerebellar Ataxia, Impaired Intellectual Development, and Disequilibrium Syndrome-2: A Case Report.

16q24.3 Microdeletions Disrupting Upstream Non-Coding Region of ANKRD11 Cause KBG Syndrome.

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

Choline enhances elicited imitation memory performance in preschool children with prenatal alcohol exposure: a cumulative report of 3 randomized controlled trials.

AUTS2-related syndrome: Insights from a large European cohort.

Infantile Epileptic Spasms Syndrome: Unveiling clinical and genetic variability in a case series from Argentina.

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

Kabuki Syndrome and Charcot-Marie-Tooth Disease Co-Occurrence: Unique Case with Novel Variant.

A Novel Missense Mutation of the ABL1 Gene in a Child With Congenital Heart Defects and Skeletal Malformations Syndrome.

Identification of a Novel ATP7A Variant in a Chinese Boy With Developmental Delay and Epilepsy.

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

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.

[Clinical and genetic characteristics analysis of two children with comorbidity of two rare genetic diseases].

Endoplasmic reticulum stress causes long bone shortening in P4hbC402R/+ mice: A mouse model exhibiting significant features of cole-carpenter syndrome driven by P4HB mutations.

From growth hormone deficiency to Kleefstra-2 syndrome: diagnostic  reassessment of treatment-refractory short stature.

No single treatment modality exhibits clear superiority for infantile spasms syndrome: insights from a retrospective cohort study.

[The effectiveness of rehabilitation measures using the drug Cortexin in children with neuropsychiatric pathology].

A novel ARCN1 splice-site variant in a Chinese girl with central precocious puberty, intrauterine growth restriction, microcephaly, and microretrognathia.

Genetic analysis of partial duplication of the long arm of chromosome 16.

Uncovering Phenotypic Expansion in AXIN2-Related Disorders through Precision Animal Modeling.

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

Skipping of Exon 20 in EP300: A Novel Variant Linked to Rubinstein-Taybi Syndrome With Atypical and Severe Clinical Manifestations.

Noonan Syndrome: Relation of Genotype to Cardiovascular Phenotype-A Multi-Center Retrospective Study.

Motor proficiency in school-aged children with CHD.

BRCC3 -Associated Syndromic Moyamoya Angiopathy Diagnosed Through Clinical RNA Sequencing.

Contribution of DNA/RNA Structures Formed by Expanded CGG/CCG Repeats Within the FMR1 Locus in the Pathogenesis of Fragile X-Associated Disorders.

Microdeletion 3q13.33-3q21.2: A Rare Cause of Neurodevelopmental Disorder.

Metataxonomic and Immunological Analysis of Feces from Children with or without Phelan-McDermid Syndrome.

RNU4-2-Related Neurodevelopmental Disorder Is Associated With a Recognisable Facial Gestalt.

Association between maternal stress and child sleep quality: a nationwide ECHO prospective cohort study.

Increased ketone levels as a key magnetic resonance spectroscopic findings during acute exacerbation in ECHS1-related Leigh syndrome.

2q31 microdeletion syndrome with the velocardiofacial phenotype and review of the literature: a case report.

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

"An update on the approach to treatment of Sjogren's Disease in pregnancy".

A long way to syndromic short stature.

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

Factors influencing efficacy and relapse of adrenocorticotropic hormone in infantile epileptic spasms syndrome.

A Rare Cause Of Proportional Short Stature and Puberty Precocity: Floating-Harbor Syndrome.

Clinical Characteristics, Genetic Analysis, and Literature Review of Cornelia de Lange Syndrome Type 4 Associated With a RAD21 Variant.

Case report: Second report of neuromuscular syndrome caused by biallelic variants in ASCC3.

Dual diagnosis of achondroplasia and mandibulofacial dysostosis with microcephaly.

Proximal 4p Deletion Syndrome in an Infant With Multiple Systemic Anomalies.

Recessive loss-of-function variants in DPH1 identified as the molecular cause in a sibling pair previously diagnosed with Fine-Lubinsky syndrome.

Atypical presentation of ACCES syndrome resembling dominant Spondyloepiphyseal dysplasia tarda.

Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene underlies a neurodevelopmental disorder.

Exome sequencing confirms the clinical diagnosis of both joubert syndrome and klinefelter syndrome with keratoconus in a han Chinese family.

Patient organization perspective: a research roadmap for Okur-Chung Neurodevelopmental Syndrome.

Multiple Aneuploidy: First Report of a Patient Presenting with a Karyotype 45,X/48,XXX,+21.

Rare Case of de Novo 2p15 Microdeletion Syndrome with Deletion Covering XPO1 and USP34 Genes Diagnosed in a Child - A Case Report.

A Novel Variant of the PIK3R1 Gene Mutation Associated With SHORT Syndrome and Agammaglobulinemia.

Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly.

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.

Metabolic and Microbial Dysregulation in Preterm Infants with Neonatal Respiratory Distress Syndrome: An Early Developmental Perspective.

Breaking new ground: Exploring de novo chromosomal rearrangements in 1p36 microdeletion.

An Unclassified Deletion Involving the Proximal Short Arm of Chromosome 10: A New Syndrome?

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

Case Report of Suspected Gonadal Mosaicism in FOXP1-Related Neurodevelopmental Disorder.

Fetal hemoglobin induction in azacytidine responders enlightens methylation patterns related to blast clearance in higher-risk MDS and CMML.

Short Report: 10-year follow-up of a boy with ARID1B-related disorder. Early intervention, longitudinal dimensional phenotype, brain imaging and outcome.

A Witteveen-Kolk Syndrome Patient with Reflux Disease and a de novo Deletion of the SIN3A Gene.

Clinical and molecular characteristics of Korean patients with Kabuki syndrome.

Case Report: Identification of a novel PRR12 variant in a Chinese boy with developmental delay and short stature.

Effect of intestinal microbiota on duck short-beak and dwarf syndrome caused by novel goose parvovirus.

[A case of a syndrome characterized by short stature, and developmental delay caused by heterozygous variation in the FOXP4 gene].

KATP channel mutation disrupts hippocampal network activity and nocturnal gamma shifts.

Expanding phenotype of MED13-associated syndrome presenting novel de novo missense variant in a patient with multiple congenital anomalies.

Clinical Characteristics of Children with <italic>THRA</italic> Mutations: Variable Phenotype and Good Response to Recombinant Human Growth Hormone Therapy.

Noonan syndrome-like phenotype associated with an ERF frameshift variant.

FBXO11 variants are associated with intellectual disability and variable clinical manifestation in Chinese affected individuals.

Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur-Chung neurodevelopmental syndrome.

Case report: Development of central precocious puberty in a girl with late-diagnosed simple virilizing congenital adrenal hyperplasia complicated with Williams syndrome.

Dental findings and intravenous sedation in a patient with Potocki-Lupski syndrome: A case report.

Paternally Inherited Noonan Syndrome Caused by a PTPN11 Variant May Exhibit Mild Symptoms: A Case Report and Literature Review.

A Case of Chromosome 17q12 Deletion Syndrome with Type 2 Mayer-Rokitansky-Küster-Hauser Syndrome and Maturity-Onset Diabetes of the Young Type 5.

Clinical and genetic characteristics of Chinese patients with Shwachman Diamond syndrome: a literature review of Chinese publication.

A novel variant in NSUN2 causes intellectual disability in a Chinese family.

Fructooligosaccharides Intake during Pregnancy Improves Metabolic Phenotype of Offspring in High Fat Diet-Induced Obese Mice.

Characteristic phenotypes of ADH5/ALDH2 deficiency during childhood.

The Phenotypic Spectrum of Desanto-Shinawi Syndrome: A Comparative Report of the First Reported Case in Turkey.

The First Korean Case with Cardiac, Facial, and Digital Anomalies with Developmental Delay Caused by De Novo TRAF7 p.Arg655Gln Variant.

Cleidocranial dysplasia associated with dentigerous cyst-review of literature and case report of two siblings.

Potocki-Lupski Syndrome in Ethiopian Child: A Case Report.

A Rare Inherited Bone Marrow Failure Syndrome Disclosed by Reanalysis of the Exome Data of a Patient Evaluated for Cytopenia and Dysmorphic Features.

Novel variants in TNRC6B cause global developmental delay with speech and behavioral abnormalities, short stature, low body weight, café-au-lait spots, and metabolic abnormality.

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

Molecular and in silico investigation of a novel ECHS1 gene mutation in a consanguine family with short-chain enoyl-CoA hydratase deficiency and Mt-DNA depletion: effect on trimer assembly and catalytic activity.

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

Cerebellar Heterotopia: Broadening the Neuroradiological Spectrum of KBG Syndrome.

[Analysis of a child with DIGFAN syndrome due to variant of MORC2 gene].