genodermatosis相关论文
Mutation p.Leu128Pro in the 1A domain of keratin 16 causes pachyonychia congenita with focal palmopl
Pachyonychia congenita(PC),a rare autosomal dominant disorder characterized by hypertrophic nail dystrophy,is classified......
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Objective:Biallelic mutations in the RecQ like helicase(RECQL)4 gene,a guardian of the genome,cause Rothmund-Thomson syn......
先证者男,33岁,具有临床三联征:全身皮肤网状色素沉着,甲营养不良和口腔黏膜白斑.先证者哥哥及表哥均出现相似临床症状.先证者实验......
Xeroderma Pigmentosum with Desquamative Gingivitis a Rare Case Report and Detailed Review of Literat
In xeroderma pigmentosum, a rare genodermatosis, transmitted as an autosomal recessive disorder, excessive solar damage ......
