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Mapping of a Hirschsprung's disease locus in 3p21

✍ Scribed by Garcia-Barceló, Maria-Mercè; Fong, Pui-yee; Tang, Clara S; Miao, Xiao-ping; So, Man-ting; Yuan, Zhen-wei; Li, Long; Guo, Wei-hong; Liu, Lei; Wang, Bin

Book ID
109847805
Publisher
Nature Publishing Group
Year
2008
Tongue
English
Weight
379 KB
Volume
16
Category
Article
ISSN
1018-4813

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A case of Hirschsprung disease with a chromosome 13 microdeletion, del(13)(q32.3q33.2): potential mapping of one disease locus
✍ Armand Bottani; Yagang Xie; Frank Binkert; Albert Schinzel 📂 Article 📅 1991 🏛 Springer 🌐 English ⚖ 570 KB

A mentally retarded boy with discrete physical findings, Hirschsprung disease (HD) and a microdeletion of 13q,del(13)(q32.3q33.2) is described. Band 13q33.1 was consistently missing in all cells. There have been, to date, 4 published cases of deletions involving the long arm of chromosome 13 associa