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.

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.

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

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.

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

SPIN4-related X-linked overgrowth in a family.

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

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

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

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

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.

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

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

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.

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

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

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.

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

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

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

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.

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

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

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

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

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

Heterogeneity of Orodental Features in a Family with Noonan Syndrome.

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

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

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

Clinical and molecular genetic analysis of a Chinese patient with Cockayne syndrome caused by ERCC8 gene synonymous variant at splicing site and exon 1 deletion.

Personalized Treatment in Rare Genetic Syndromes: A Case-Report in Witteveen-Kolk Syndrome (SIN3A).

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

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.

Dilated cardiomyopathy in Rubinstein-Taybi syndrome: A case report and mini-review of the literature.

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

Anesthetic Management During Post-tonsillectomy Hemorrhage in a Child With Noonan Syndrome: A Case Report.

Rubinstein-Taybi Syndrome: A Comprehensive Analysis of a Polish Cohort with Most Cases Due to Novel CREBBP and EP300 Variants.

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

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

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

Phosphoglucomutase 1 deficiency misdiagnosed as Laron syndrome.

Relationship between premenstrual syndrome symptoms, anthropometric measurements, and eating behaviors in women of childbearing age: Turkish sample.

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

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

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

Adult genomic medicine: lessons from a multisite study of 2700 patients.

Rare features in Feingold syndrome type 1.

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

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

Turner syndrome with pulmonary arteriovenous malformation: a case report.

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.

Development of disease-specific growth charts for Argentine Prader-Willi syndrome without growth hormone treatment.

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

Autoimmune thyroid disease and pituitary adenoma in a female patient with 18p deletion syndrome: a case report and review of the literature.

[Novel PAX1 mutation identified in autosomal dominant otofaciocervical syndrome 2 with new phenotypes].

Further delineation of ERF-related Chitayat syndrome.

Pearson syndrome with atypical presentation of short stature and atypical limb proportions - First reported case in Slovakia.

Three-dimensional cephalometric analysis of morphological characteristics in children with bilateral craniofacial microsomia.

Should XYY syndrome be considered in the differential diagnosis of syndromic myopia? Apropos of a case.

Arterial tortuosity syndrome.

Bilateral Choanal Atresia With Facial Deformity.

β-Actin Deficiency in Baraitser-Winter Syndrome Type 1 Disrupts T-Cell Function and Immune Regulation: Implications for Targeted Therapy in Actinopathies.

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.

[Clinical and molecular genetic features of cases of Floating-Harbor syndrome].

Phenotypic and genotypic description of GMPPA-congenital disorder of glycosylation: A review of 26 cases.

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

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

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

Diagnosis and recombinant human growth hormone treatment of Wiedemann-Steiner syndrome: discovery of novel KMT2A variants and review of existing literature.

Establishing an algorithm for molecular genetic diagnostics in Chinese children with brachydactyly type E.

[Analysis of clinical characteristics and NF1 gene variants in a child with Neurofibroma-Noonan syndrome].

Foveal hypoplasia in Myhre syndrome: a novel association.

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].

Clinical and genetic diagnosis and management of Silver-Russell syndrome: Report of four cases.

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

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.

Mucopolysaccharidosis Type I and α-Mannosidosis-Phenotypically Comparable but Genetically Different: Diagnostic and Therapeutic Considerations.

ACTC1 Variants Result in Isolated and Syndromic Cardiac Phenotypes.

A case of SHORT syndrome with a novel genetic mutation diagnosed 19 years after the onset of diabetes.

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

Functional Independence of Taiwanese Children with Silver-Russell Syndrome.

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.

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

Treatment Experience With Midfacial Distraction Osteogenesis for Down Syndrome.

A KDM6 A variant in a Chinese female patient with diabetes mellitus and oligomenorrhea: a case report.

Neck circumference can be a better predictor of cardiometabolic syndrome among body shape indexes and other anthropometry parameters - A cross-sectional study from Mashhad Persian Cohort.

A first-in-human, prospective pilot trial of umbilical cord-derived mesenchymal stem cell eye drops therapy for patients with refractory non-Sjögren's and Sjögren's syndrome dry eye disease.

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

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

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

Extended Growth Curves for the Wolf-Hirschhorn Syndrome (4p-).

Clinical delineation and genotype-phenotype correlation in 104 children with kabuki syndrome: A single-center, cross-sectional and follow-up study in China.

An Update on 3M Syndrome: Review of Clinical and Molecular Aspects and Report of Additional Families.

Expanding the Phenotypic Spectrum of DPH2 -Related Disorder.

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.

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

A Rare Case of PRKACA Duplication-Associated Childhood-Onset Primary Pigmented Nodular Adrenocortical Disease.

Development of Obesity following Treatment for Childhood Malignancies.

Fatal Seatbelt Syndrome in an Elderly Wheelchair User: 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.

A Drosophila model for Costello Syndrome caused by Ras mutation K117R.

Associations of Karyotype and Age at Diagnosis with Physical Features and Comorbidities in Turner Syndrome: A Single-Site Experience.

DNA ligase IV deficiency identified in a patient with hypergonadotropic hypogonadism: a case report.

Monosomy 18p with Unbalanced Translocation Between 13 and 18 Chromosomes: First Reported Case in Serbia.

Quantitative hypermorphic FAM111A alleles cause autosomal recessive Kenny-Caffey syndrome type 2 and osteocraniostenosis.

Renpenning syndrome related to a missense variant in polyglutamine-binding protein 1 (PQBP1): Two pediatric cases from a Chinese family and literature review.

Effects of blinking exercises on palpebral fissure height and tear film parameters.

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).

Moebius syndrome and hypopituitarism: a case of multiple pituitary hormone deficiency and revision of the literature.

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

PAK3 pathogenic variant associated with sleep-related hypermotor epilepsy in a family with parental mosaicism.

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

[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.

Extended clinical phenotypes and treatment modalities in 32 JAGN1-deficient patients: a multicenter study by ESID and EBMT IEWP.

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

Renal transplantation in patients with cryopyrin-associated periodic syndrome: A case report and literature review.

A neurophysiological and genetic assessment of a case of rapidly progressive scoliosis.

Expanding the Clinical and Mutational Spectrum of Biallelic POC1A Variants: Characterization of Four Patients and a Comprehensive Review of POC1A-Related Phenotypes.

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

Portraying the full picture of Neurofibromatosis-Noonan syndrome: a systematic review of literature.

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.

Variants of the PTPN11 Gene in Mexican Patients with Noonan Syndrome.

Molecular analysis of mucopolysaccharidosis type VI in Iranian patients; the influence of founder effect and consanguinity.

Expanding the phenotyping spectrum of Witteveen Kolk syndrome: first report of generalized dystonia and cerebellar ataxia.

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

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

Ring Chromosome 17 Syndrome-A Case Report and Discussion of Diagnostic Methods.

A rare Coffin-Siris syndrome induced by SOX11: a de novo nonsense variant of short stature.

Deciphering Growth Patterns in Korean Children With Sotos Syndrome Through the Development of a Disease-Specific Growth Chart.

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

Primary and residual cardiometabolic risk factors among young adults in a Russian city.

Derivation of induced pluripotent stem cell from a Baraitser-Winter Cerebrofrontofacial syndrome with ACTB mutation.

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

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

Unraveling the Genetic Puzzle: Could MAP3K7 Be a Candidate Gene for RASopathies? Case Presentation.

KBG Syndrome in 16 Indian Individuals.

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.

[Genetic analysis of a child with 18q terminal deletion and aortic regurgitation and a literature review].

A long way to syndromic short stature.

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

Novel 10q21.1-q22.1 Duplication in a Boy with Minor Facial Dysmorphism, Mild Intellectual Disability, Autism Spectrum Disorder-Like Phenotype, and Short Stature.

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

More than three years' treatment response of recombinant human growth hormone in a patient with Coffin-Siris syndrome 7.

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

Maximum mouth opening in patients with cleft lip and palate or craniofacial anomalies compared with non-affected controls: A cross-sectional study.

Discovery of a TRMT10A mutation in a case of atypical diabetes: Case report.

Dual diagnosis of achondroplasia and mandibulofacial dysostosis with microcephaly.

Behavioral Changes in a Pediatric Patient With Sotos Syndrome: A Case Emphasizing the Importance of Coordinated Care.

Fahr's syndrome as the initial imaging characteristics of MELAS syndrome with a possible seizure activity and cardiac arrest: a case report.

Mauriac Syndrome: A Rare Condition With Cushingoid Feature and Hepatomegaly in Poorly Controlled Diabetes Mellitus Type 1.

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.

Noonan syndrome and Noonan-like syndrome with loose anagen hair: rare phenotypes may emerge during follow-up.

A Novel ZBTB20 Variant in a Patient with Primrose Syndrome: A Rare Clinical Entity with Distinctive Features.

Prenatal Diagnosis of Myhre Syndrome in Two Cases: Further Delineation of the Cardiac and External Phenotype.

Expanding the Clinical Features of Schimke Immuno-osseous Dysplasia: a New Patient with a Novel Variant and Novel Clinical Findings.

Case Report: Two different acromelic dysplasia phenotypes in a Chinese family caused by a missense mutation in FBN1 and a literature review.

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

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.

DiGeorge Syndrome Diagnosed at Age 38: Challenges in Low-resource Settings and Implications of a Missed Diagnosis.

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.

Ciliopathies are responsible for short stature and insulin resistance: A systematic review of this clinical association regarding SOFT syndrome.

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

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

Alterations in Neural Activation During Facial Emotion Processing in Adolescent Male Participants With Klinefelter Syndrome.

A Japanese Boy with Dysmorphic Syndrome with Multiple Pituitary Hormone Deficiency and Gingival Fibromatosis Due to a Pathogenic KCNQ1 Variant.

Hemifacial microsomia: a scoping review on progressive facial asymmetry due to mandibular deformity.

A Pair of Sibling Patients With Premature Aging Syndrome of Unknown Etiology.

A Case of Noonan Syndrome and Kyrle's Disease: Coincidence or Causality?

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.

Mapping genes for human face shape: exploration of univariate phenotyping strategies.

Bartter Syndrome Presenting as Arginine-Vasopressin Resistance: A Report of 2 Cases.

Caudal regression in fetus with de novo SMARCA2 pathogenic variant.

The age of the obesity onset is a very important factor for the development of metabolic complications and cardiovascular risk in children and adolescents with severe obesity.