Article
Rethinking the fate of males with mutations in the gene that causes Rett syndrome.
Brain & development - 1 Dec 2001
Schanen C
Abstract excerpt
Rett syndrome (RTT) is usually described as an X-linked dominant disorder that is lethal prenatally to males. While this hypothesis stemmed from the nearly exclusive recognition of the classical features in females and the scarcity of similarly affected or severely affected brothers of girls manifesting the classic phenotype, there are actually no pedigree data to support it. The identification of...
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