Identification of a family with nonspeci
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Birgitta Winnepenninckx; Vanessa Errijgers; France Hayez-Delatte; Edwin Reyniers
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Article
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2002
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John Wiley and Sons
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English
β 126 KB
Mutations in the methyl-CpG-binding protein 2 (MECP2) cause Rett syndrome, a severe neurodevelopmental disorder occurring predominantly in females. Male patients with Rett syndrome are extremely rare, as the Rett-causing mutations in the MECP2 gene are usually lethal in hemizygous males. However, di