{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["22(11)"],"submitter":["Michot C"],"pubmed_abstract":["Myhre syndrome is characterized by short stature, brachydactyly, facial features, pseudomuscular hypertrophy, joint limitation and hearing loss. We identified SMAD4 mutations as the cause of Myhre syndrome. SMAD4 mutations have also been identified in laryngotracheal stenosis, arthropathy, prognathism and short stature syndrome (LAPS). This study aimed to review the features of Myhre and LAPS patients to define the clinical spectrum of SMAD4 mutations. We included 17 females and 15 males ranging in age from 8 to 48 years. Thirty were diagnosed with Myhre syndrome and two with LAPS. SMAD4 coding sequence was analyzed by Sanger sequencing. Clinical and radiological features were collected from a questionnaire completed by the referring physicians. All patients displayed a typical facial gest"],"journal":["European journal of human genetics : EJHG"],"pagination":["1272-7"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC4200423"],"repository":["biostudies-literature"],"pubmed_title":["Myhre and LAPS syndromes: clinical and molecular review of 32 patients."],"pmcid":["PMC4200423"],"pubmed_authors":["Mansour S","Raas-Rothschild A","Simon M","Di Rocco M","Rio M","Tolmie J","Mahaut C","Kannu P","Lin AE","Brooks AS","Jacquemont S","van Essen T","Hennekam R","Campeau PM","Donnai D","Marlin S","Verloes A","Cormier-Daire V","Afenjar A","Murphy H","Destree A","Manouvrier-Hanu S","Heron D","Sznajer Y","Michot C","McGowan R","Munnich A","Le Goff C","Stolte-Dijkstra I","Stone JR","van den Ende J","Van der Aa N","Touraine R"],"additional_accession":[]},"is_claimable":false,"name":"Myhre and LAPS syndromes: clinical and molecular review of 32 patients.","description":"Myhre syndrome is characterized by short stature, brachydactyly, facial features, pseudomuscular hypertrophy, joint limitation and hearing loss. We identified SMAD4 mutations as the cause of Myhre syndrome. SMAD4 mutations have also been identified in laryngotracheal stenosis, arthropathy, prognathism and short stature syndrome (LAPS). This study aimed to review the features of Myhre and LAPS patients to define the clinical spectrum of SMAD4 mutations. We included 17 females and 15 males ranging in age from 8 to 48 years. Thirty were diagnosed with Myhre syndrome and two with LAPS. SMAD4 coding sequence was analyzed by Sanger sequencing. Clinical and radiological features were collected from a questionnaire completed by the referring physicians. All patients displayed a typical facial gest","dates":{"release":"2014-01-01T00:00:00Z","publication":"2014 Nov","modification":"2025-04-25T20:26:52.007Z","creation":"2019-03-27T01:37:50Z"},"accession":"S-EPMC4200423","cross_references":{"pubmed":["24424121"],"doi":["10.1038/ejhg.2013.288"]}}