Article
Brachydactyly type A3 is caused by a novel 13 bp HOXD13 frameshift deletion in a Chinese family.
American journal of medical genetics. Part A - 1 Oct 2020
Zhang Mengshu, Lu Likui, Wei Bin, Zhang Yingying, Li Xiang, Shi Yajun, Ge Wei, Sun Miao
Abstract excerpt
Brachydactyly type A (BDA) is defined as short middle phalanges of the affected digits and is subdivided into four types (BDA1-4). To date, the molecular cause is unknown. However, there is some evidence that pathogenic variants of HOXD13 could be associated with BDA3 and BDA4. Here, we report a Chinese autosomal dominant BDA3 pedigree with a novel HOXD13 mutation. The affected individuals presented with an...
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