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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...

De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene

Archive ouverte | Chemin, Jean | CCSD

IF 10.848. International audience. Cerebellar atrophy is a key neuroradiological finding usually associated with cerebellar ataxia and cognitive development defect in children. Unlike the adult forms, early onset ce...

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...

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