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Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases

Archive ouverte | Di Meglio, Chloé | CCSD

International audience. Objective: Mutations in the syntaxin binding protein 1 gene (STXBP1) have been associated mostly with early onset epileptic encephalopathies (EOEEs) and Ohtahara syndrome , with a mutation de...

Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability

Archive ouverte | Choucair, Nancy | CCSD

International audience. Background: The premature fusion of metopic sutures results in the clinical phenotype of trigonocephaly. An association of this characteristic with the monosomy 9p syndrome is well establishe...

Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients

Archive ouverte | Choucair, Nancy | CCSD

International audience. Background: Chromosomal microarray analysis (CMA) is currently the most widely adopted clinical test for patients with unexplained intellectual disability (ID), developmental delay (DD), and ...

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