Article
Mental retardation in a boy with an interstitial deletion at Xp22.3 involving STS, KAL1, and OA1: implication for the MRX locus.
American journal of medical genetics - 6 Sept 1996
Muroya K, Ogata T, Matsuo N, Nagai T, Franco B, Ballabio A, Rappold G, Sakura N, Fukushima Y
Abstract excerpt
Although genotype-phenotype correlations in male patients with various types of nullisomy for Xp22.3 have assigned a locus for X-linked mental retardation (MRX) to an approximately 3-Mb region between DXS31 and STS, the precise location has not been determined. In this paper, we describe a 14 7/12 year old Japanese boy with mental retardation and an interstitial deletion at Xp22.3 involving STS, KAL1, and OA1,...
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