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Localization of a multiple synostoses-syndrome disease gene to chromosome 17q21-22.

Multiple synostoses syndrome is an autosomal dominant disorder characterized by premature onset of joint fusions, which initially affect the interphalangeal joints, by characteristic facies, and by deafness. We performed linkage analysis on a large Hawaiian family with multiple synostoses syndrome....

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Hlavní autoři: Krakow, D, Reinker, K, Powell, B, Cantor, R, Priore, M A, Garber, A, Lachman, R S, Rimoin, D L, Cohn, D H
Médium: Artigo
Jazyk:Inglês
Vydáno: 1998
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377242/
https://ncbi.nlm.nih.gov/pubmed/9634519
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