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- W1965579405 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." @default.
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- W1965579405 date "2002-08-30" @default.
- W1965579405 modified "2023-10-15" @default.
- W1965579405 title "Further delineation of Wittwer syndrome and refinement of the mapping region" @default.
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- W1965579405 doi "https://doi.org/10.1002/ajmg.a.10874" @default.
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