Disease: Short stature valvular heart disease
- 3-year-old female with short stature and mental retardation
- 6q25.1 (TAB2) microdeletion is a risk factor for hypoplastic left heart: a case report that expands the phenotype
- A case of GH deficiency and beta-thalassemia
- A case of Seckel syndrome with tricuspid atresia
- A de novo pathogenic BMP2 variant-related phenotype with the novel finding of bicuspid aortic valve
- A novel CHST3 allele associated with spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred
- A Novel Homozygous Loss-of-Function Variant in <em>SPRED2</em> Causes Autosomal Recessive Noonan-like Syndrome
- A Novel Pathological <em>ARSB</em> Mutation (c.870G>A; p.Trp290stop) in Mucopolysaccharidosis Type VI Patients
- A novel variant in <em>MAP3K7</em> associated with an expanded cardiospondylocarpofacial syndrome phenotype
- A rare case of Watson syndrome
- A Rare Coincidence of Three Inherited Diseases in a Family with Cardiomyopathy and Multiple Extracardiac Abnormalities
- A single nucleotide deletion resulting in a frameshift in exon 4 of TAB2 is associated with a polyvalular syndrome
- Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy
- Allogeneic Hematopoietic Stem Cell Transplantation in Thirty-Four Pediatric Cases of Mucopolysaccharidosis-A Ten-Year Report from the China Children Transplant Group
- ALPK3 gene-related pediatric cardiomyopathy with craniofacial-skeletal features: a report and literature review
- Anthropometric and body-mass composition suggests an intrinsic feature in Williams-Beuren syndrome
- Anxious, hypoactive phenotype combined with motor deficits in Gtf2ird1 null mouse model relevant to Williams syndrome
- Aortic dilatation and dissection in Turner syndrome: what we know, what we are unclear about and what we should do in clinical practice?
- Aortic root aneurysm in a patient with Aarskog-Scott syndrome
- Atypical 7q11.23 deletions excluding ELN gene result in Williams-Beuren syndrome craniofacial features and neurocognitive profile
- Atypical deletions in Williams-Beuren syndrome
- Atypical Progeroid Syndrome and Partial Lipodystrophy Due to <em>LMNA</em> Gene p.R349W Mutation
- Atypical Williams syndrome in an infant with complete atrioventricular canal defect
- Bicuspid aortic valve and aortic coarctation are linked to deletion of the X chromosome short arm in Turner syndrome
- Bleeding diathesis in Noonan syndrome: is acquired von Willebrand syndrome the clue?
- Cardiac examination in children with Laron syndrome undergoing mecasermin therapy
- Cardiac involvement in geleophysic dysplasia in three siblings of a Saudi family
- Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: clinical and molecular findings in 11 patients
- Cardiovascular disease in Noonan syndrome
- Case report: Development of central precocious puberty in a girl with late-diagnosed simple virilizing congenital adrenal hyperplasia complicated with Williams syndrome
- Case report: The cardio-facio-cutaneous syndrome due to a novel germline mutation in <em>MAP2K1</em>: A multifaceted disease with immunodeficiency and short stature
- Case report: The cardio-facio-cutaneous syndrome due to a novel germline mutation in MAP2K1: A multifaceted disease with immunodeficiency and short stature
- Characteristics and genotype-phenotype correlations in ADAMTS17 mutation-related Weill-Marchesani syndrome
- Clinical expression of familial Williams-Beuren syndrome in a Turkish family
- Clinical manifestations and genetic mutation analysis of patients with mucopolysaccharidosis type VII in China
- Clinical phenotypes study of 231 children with Williams syndrome in China: A single-center retrospective study
- Congenital polyvalvular disease expands the cardiac phenotype of the RASopathies
- Coronary artery disease in adults with Noonan syndrome: Case series and literature review
- Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant
- Dilatation of the Ascending Aorta in Turner Syndrome: Influence of Bicuspid Aortic Valve Morphology and Body Composition
- Endocrine manifestations in children with Williams-Beuren syndrome
- Endocrinopathies and cardiopathies in patients with Turner syndrome
- Enzymatic diagnosis and clinical characteristics of 52 children with mucopolysaccharidosis
- Evaluating the relationship between the proportion of X-chromosome deletions and clinical manifestations in children with turner syndrome
- Expanding genotypic and phenotypic spectrums of LTBP3 variants in dental anomalies and short stature syndrome
- Expanding the phenotype of feingold syndrome-2
- Fatal heart failure caused by severe pulmonary regurgitation, tricuspid regurgitation and late-onset mitral stenosis in an adult patient with Noonan syndrome: a case report
- Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations
- Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome
- Geleophysic and acromicric dysplasias: natural history, genotype-phenotype correlations, and management guidelines from 38 cases
- Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation
- Genotype-phenotype correlation analysis in Japanese patients with Noonan syndrome
- Growth assessment in children with Williams-Beuren syndrome: a systematic review
- Hypertrophic cardiomyopathy and Costello syndrome: review of recent related literature with case report
- Hypertrophic cardiomyopathy with Jeune syndrome: The first reported case
- Insights into the molecular pathogenesis of cardiospondylocarpofacial syndrome: MAP3K7 c.737-7A > G variant alters the TGFβ-mediated α-SMA cytoskeleton assembly and autophagy
- Isolated tricuspid valve Staphylococcus lugdunensis endocarditis in patient with a KBG syndrome
- Late diagnosis of mucopolysaccharidosis type IVB and successful aortic valve replacement in a 60-year-old female patient
- Left-sided valvular heart disease and retinopathy in a 38-year-old woman with attenuated mucopolysaccharidosis: a case report
- LEOPARD Syndrome with Patent Ductus Arteriosus and Hypertrophic Cardiomyopathy
- LEOPARD syndrome-associated SHP2 mutation confers leanness and protection from diet-induced obesity
- Leopard syndrome: a report of five cases from one family in two generations
- LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy
- Male infant with Noonan syndrome with <em>RAF-1</em> gene mutation who survived hypertrophic cardiomyopathy-induced fatal heart failure and uncontrollable arrhythmias
- Male infant with Noonan syndrome with RAF-1 gene mutation who survived hypertrophic cardiomyopathy-induced fatal heart failure and uncontrollable arrhythmias
- Mitral and tricuspid repair in an adult achondroplastic patient
- Mitral and tricuspid valve surgery for Coffin-Lowry syndrome
- Mitral valve edge-to-edge repair in an inoperable adult with achondroplasia: Technical considerations
- Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients
- Mosaic Williams syndrome: A case report
- Mulibrey Nanism and the Real Time Use of Genome and Biobank Engines to Inform Clinical Care in an Ultrarare Disease
- Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA
- New recessive truncating mutation in LTBP3 in a family with oligodontia, short stature, and mitral valve prolapse
- Nicolaides-Baraitser syndrome in a patient with hypertrophic cardiomyopathy and <em>SMARCA2</em> gene deletion
- Noonan Syndrome: An Underestimated Cause of Severe to Profound Sensorineural Hearing Impairment. Which Clues to Suspect the Diagnosis?
- Novel PRKAG2 variant presenting as liver cirrhosis: report of a family with 2 cases and review of literature
- Perceval S aortic valve implantation in an achondroplastic Dwarf
- Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencing
- Phosphoproteomics-mediated identification of Fer kinase as a target of mutant Shp2 in Noonan and LEOPARD syndrome
- Prevalence of Noonan spectrum disorders in a pediatric population with valvar pulmonary stenosis
- PZR coordinates Shp2 Noonan and LEOPARD syndrome signaling in zebrafish and mice
- RAF1 variant in a patient with Noonan syndrome with multiple lentigines and craniosynostosis
- RAF1 variants causing biventricular hypertrophic cardiomyopathy in two preterm infants: further phenotypic delineation and review of literature
- Rapidly progressive mitral valve stenosis in patients with acromelic dysplasia
- Rare case of severe non-calcific aortic stenosis in an achondroplastic dwarf: surgical consideration
- Region-specific gene expression profiles in the left atria of patients with valvular atrial fibrillation
- Relation of Stature to Outcomes in Korean Patients Undergoing Primary Percutaneous Coronary Intervention for Acute ST-Elevation Myocardial Infarction (from the INTERSTELLAR Registry)
- Repeated General Anesthesia in a Patient With Noonan Syndrome
- RIT1: a novel gene associated with Noonan syndrome
- Second instance of co-occurring 22q11.2 deletion syndrome and Williams syndrome
- Serious aortic complications in a patient with Turner syndrome
- Surgical Correction of Cardiac Defects with Ellis Van Crevald Syndrome - A Rare Case Report
- TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility
- Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders
- The added value of the electrocardiogram in Noonan syndrome
- The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor
- The Prevalence of Noonan Spectrum Disorders in Pediatric Patients with Pulmonary Valve Stenosis
- Use of a Spinal-Caudal Epidural Technique for Abdominal Surgery in a Newborn With Noonan Syndrome and Severe Hypertrophic Cardiomyopathy
- Williams Syndrome With Rare Ureteric Abnormality
- Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA