A 4.6 kb genomic duplication on 20p12.2-12.3 is associated with brachydactyly type A2 in a Chinese family.

Abstract

BACKGROUND Brachydactyly type A2 (BDA2) is an autosomal dominant disorder. It was recently reported that a 5.9 kb duplication and a 5.5 kb duplication in the region 20p12.2-12.3 are associated with BDA2 in two European families. OBJECTIVE To characterise a 6-generation Chinese family with 16 members affected by BDA2 and map the gene to 20p12.2-12.3… (More)
DOI: 10.1136/jmg.2010.084814

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