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Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome

✍ Scribed by B Budny; M Badura-Stronka; A Materna-Kiryluk; A Tzschach; M Raynaud; A Latos-Bielenska; HH Ropers

Book ID: 110889037
Publisher: John Wiley and Sons
Year: 2010
Tongue: English
Weight: 966 KB
Volume: 77
Category: Article
ISSN: 0009-9163
DOI: 10.1111/j.1399-0004.2010.01429.x

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## Abstract Snyder–Robinson syndrome (SRS, OMIM 309583) is a rare X‐linked syndrome characterized by mental retardation, marfanoid habitus, skeletal defects, osteoporosis, and facial asymmetry. Linkage analysis localized the related gene to Xp21.3–p22.12, and a G‐to‐A transition at point +5 of intr