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DE NOVO MUTATION IN ATP6V1B2 IMPAIRS LYSOSOME ACIDIFICATION AND CAUSES DOMINANT DEAFNESS-ONYCHODYSTR
[会议论文] 作者：Chang,Jin Zeng,Feng Xin,Jianjun Wang,Qingyan Zhu,Jing Wu,Jingqiao Lu,Weiwei Guo,Xukun Yan,Hui Jiang,Binfei Zhou,
来源：The 2nd International Rare Diseases Research Consortium Conf 年份：2014
Dominant deafness-enychodystrophy syndrome (DDOD,MIM 124480) is a type of ectodermal cysplasia characterized mainly by congenital deafness,absent nails and/or toes with variable presence of brachydact...
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