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Fine mapping of the 9q31 Hirschsprung’s disease locus

✍ Scribed by C. S. Tang; Y. Sribudiani; X. P. Miao; A. R. de Vries; G. Burzynski; M. T. So; Y. Y. Leon; B. H. Yip; J. Osinga; K. J. W. S. Hui; J. B. G. M. Verheij; S. S. Cherny; P. K. H. Tam; P. C. Sham; R. M. W. Hofstra; M. M. Garcia-Barceló

Book ID
106134977
Publisher
Springer
Year
2010
Tongue
English
Weight
365 KB
Volume
127
Category
Article
ISSN
0340-6717

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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