少牙症
掌跖角化病
错义突变
医学
皮肤病科
突变
角化病
基因突变
骨硬化
角化过度
遗传学
病理
基因
生物
牙科
作者
Sokounthie Ou,Nicole Cesarato,Pierre Mauran,Marie-Paule Gellé,Holger Thiele,Regina C. Betz,Manuelle Viguier,L. Gusdorf
摘要
A new de novo heterozygous mutation in the desmoplakin gene, causing Naxos and Carvajal disease, has been reported in a 13-year-old Caucasian girl, with expanded clinical phenotype. In addition to woolly hair, palmoplantar keratoderma and cardiomyopathy, she had oligodontia and nail fragility. These additional clinical features may help in the diagnosis of Naxos and Carvajal disease, known to be severe on the cardiac level.
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