Research By Disease – CheckOrphan

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 SPRED2 Causes Autosomal Recessive Noonan-like Syndrome
A Novel Pathological ARSB Mutation (c.870G>A; p.Trp290stop) in Mucopolysaccharidosis Type VI Patients
A novel variant in MAP3K7 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 LMNA 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 MAP2K1: 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 RAF-1 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 SMARCA2 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