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Further delineation of Wittwer syndrome and refinement of the mapping region

✍ Scribed by Wieland, Ilse ;Muschke, Petra ;Wieacker, Peter

Publisher: John Wiley and Sons
Year: 2002
Tongue: English
Weight: 110 KB
Volume: 116A
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.a.10874

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✦ Synopsis

Abstract

In 1996, Wittwer et al. described a XLMR‐syndrome mapping in Xp22.3. This family was reexamined. The spectrum of clinical symptoms now includes progressive skeletal lesions with osteoplastic and osteoclastic changes. Haplotype analysis using 23 microsatellite markers on Xp22 localized the disease locus between DXS8095 and DXS7108 comprising 3.9–6.1 Mb. This interval overlaps with known contiguous gene‐deletion syndromes. However, deletion analysis of identified genes and ESTs in the critical interval for Wittwer syndrome showed no loss of the corresponding marker sequences in the patients. © 2002 Wiley‐Liss, Inc.

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