Article
A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy.
Annals of neurology - 1 Jan 2000
Guerrini R, Shanahan J L, Carrozzo R, Bonanni P, Higgs D R, Gibbons R J
Abstract excerpt
Mutations in the X-encoded gene ATRX are known to give rise to profound syndromal mental retardation (MR). Here, we describe a pedigree, including 4 affected family members with a 324C-->T nonsense mutation in the ATRX gene. Although 2 patients have moderate to profound MR and the typical facial features of ATR-X syndrome, the other 2 patients presented with mild MR and epilepsy but without the characteristic...
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