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The clinical phenotype in institutionalised adult males with X-linked mental retardation (XLMR)

✍ Scribed by G.J.C.M. Van Buggenhout; J.C.M. Trommelen; H.G. Brunner; B.C.J. Hamel; Jean-Pierre Fryns


Book ID
113987230
Publisher
Elsevier Science
Year
2001
Tongue
English
Weight
505 KB
Volume
44
Category
Article
ISSN
0003-3995

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X-linked nonspecific mental retardation
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The identification of X-linked mental retardation genes (XLMR) represents a challenge of considerable medical importance, given the reported high cumulative frequency of this heterogenous disorder, estimated at approximately 1/600 male births. Whereas pooling families is useful to fine-map genetic l

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The initial goal of this study was to localize as many genes as possible that lead to syndromic and non-specific XLMR. More recently, this goal has been redefined to include narrowing these localizations and cloning specific genes. In the last 5 years, 61 families have participated in this study; 34