Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation

Split-hand/foot malformation (SHFM) is a congenital limb deformity due to the absence or dysplasia of central rays of the autopod. Six SHFM loci have already been identified. Here we describe a Chinese family with autosomal-dominant SHFM1 that has previously been mapped to 7q21.2-21.3. The two affec...

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Главные авторы: Wang, Xue, Xin, Qian, Li, Lin, Li, Jiangxia, Zhang, Changwu, Qiu, Rongfang, Qian, Chenmin, Zhao, Hailing, Liu, Yongchao, Shan, Shan, Dang, Jie, Bian, Xianli, Shao, Changshun, Gong, Yaoqin, Liu, Qiji
Формат: Artigo
Язык:Inglês
Опубликовано: Nature Publishing Group 2014
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Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC4135423/
https://ncbi.nlm.nih.gov/pubmed/24496061
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.7
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