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A Gene for Autosomal Recessive Spondylocostal Dysostosis Maps to 19q13.1-q13.3

✍ Scribed by Peter D. Turnpenny; Michael P. Bulman; Timothy M. Frayling; Tewfiq K. Abu-Nasra; Christine Garrett; Andrew T. Hattersley; Sian Ellard


Book ID
117852897
Publisher
American Society of Human Genetics
Year
1999
Tongue
English
Weight
279 KB
Volume
65
Category
Article
ISSN
0002-9297

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A novel autosomal recessive nonsyndromic
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A consanguineous family with autosomal recessive nonsyndromic hearing impairment (NSHI) was ascertained in Pakistan and displayed significant evidence of linkage to 3q13.31-q22.3. The novel locus (DFNB42) segregating in this kindred, maps to a 21.6 cM region according to a genetic map constructed us