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Incidence and clinical features of X-linked Cornelia de Lange syndrome due toSMC1L1 mutations

Archive ouverte | Borck, Guntram | CCSD

International audience. Cornelia de Lange syndrome (CdLS) is a multisystem developmental disorder characterized by facial dysmorphism, growth and mental retardation, microcephaly, and various malformations. Heterozy...

Only four genes (EDA1, EDAR, EDARADD and WNT10A) account for 90 % of hypohidrotic/anhidrotic ectodermal dysplasia cases

Archive ouverte | Cluzeau, Céline | CCSD

International audience. Hypohidrotic and anhidrotic ectodermal dysplasia (HED/EDA) is a rare genodermatosis characterized by abnormal development of sweat glands, teeth and hair. Three disease causing genes have bee...

Xq25 duplications encompassing GRIA3 and STAG2 genes in two families convey recognizable X-linked intellectual disability with distinctive facial appearance.

Archive ouverte | Philippe, Anne | CCSD

International audience. We report here on two patients with Xq25 duplication encompassing GRIA3 gene, encoding glutamate receptor, ionotropic, AMPA subunit 3. The first case of Xq25 duplication was identified using ...

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