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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...

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...

Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature

Archive ouverte | Faivre, Laurence | CCSD

International audience. Overgrowth is rarely associated with chromosomal imbalances. Here we report on four children from two unrelated families presenting with overgrowth and a terminal duplication of the long arm ...

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