Article
Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis.
Neurogenetics - 1 Mar 2006
Poirier K, Lacombe D, Gilbert-Dussardier B, Raynaud M, Desportes V, de Brouwer A P M, Moraine C, Fryns J P, Ropers H H, Beldjord C, Chelly J, Bienvenu T
Abstract excerpt
Mutations in the human ARX gene have been shown to cause nonsyndromic X-linked mental retardation (MRX) as well as syndromic forms such as X-linked lissencephaly with abnormal genitalia (XLAG), Partington syndrome and X-linked infantile spasm. The most common causative mutation, a duplication of 24 bp, was found in families with a variety of phenotypes, but not in the more severe XLAG phenotypes. The aim of the...
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