Suggestions

Du même auteur

Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth

Archive ouverte | Malan, Valérie | CCSD

International audience. Overgrowth syndromes are a heterogeneous group of conditions including endocrine hormone disorders, several genetic syndromes and other disorders with unknown etiopathogenesis. Among genetic ...

A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation

Archive ouverte | Colleaux, Laurence | CCSD

International audience. Cryptic unbalanced subtelomeric rearrangements are known to cause a significant proportion of idiopathic mental retardation in childhood. Because of the limited sensitivity of routine analyse...

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome

Archive ouverte | de Pontual, Loic | CCSD

International audience. Pitt-Hopkins syndrome is a severe congenital encephalopathy recently ascribed to de novo heterozygous TCF4 gene mutations. We report a series of 13 novel PHS cases with a TCF4 mutation and sh...

Chargement des enrichissements...