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Mutation p.Leu128Pro in the 1A domain of keratin 16 causes pachyonychia congenita with focal palmopl
[会议论文] 作者：Limeng Dai,Hong Guo,Dan Liu,Qiong Liao,Yun Bai,
来源：中华医学会2012年医学遗传学年会暨全国第十一次医学遗传学学术会议 年份：2012
Pachyonychia congenita(PC),a rare autosomal dominant disorder characterized by hypertrophic nail dystrophy,is classified into two main clinical subtypes,PC-1 and PC-2.PC-1 is associated with mutations...
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