Article
Neonatal encephalopathy in two boys in families with recurrent Rett syndrome.
Journal of child neurology - 1 May 1998
Schanen N C, Kurczynski T W, Brunelle D, Woodcock M M, Dure L S, Percy A K
Abstract excerpt
Rett syndrome (RTT) has been described in its classic form only in females. Although the majority of cases are sporadic, familial cases give valuable insight into the genetic basis and phenotypic variability of the disorder. The exclusive occurrence of classic Rett syndrome in females led to the hypothesis that the Rett syndrome locus is likely to be X-linked and mutations are lethal in hemizygous males. We...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
