Article
Severe nonspecific X-linked mental retardation caused by a proximally Xp located gene: intragenic heterogeneity or a new form of X-linked mental retardation?
American journal of medical genetics - 15 Apr 1993
Passos-Bueno M R, Byth B C, Rosenberg S, Takata R I, Bakker E, Beggs A H, Pavanello R C, Vainzof M, Davies K E, Zatz M
Abstract excerpt
X-linked mental retardation (XLMR) can be subdivided into syndromic and nonsyndromic or nonspecific. Patients with non-syndromal XLMR show no characteristic manifestations, biochemical defects, or distinct fragile sites. Nevertheless, nonspecific XLMR seems to be heterogeneous. To determine the number and location of the genes responsible for XLMR, linkage studies in large pedigrees have to be performed. Here we...
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