Mutations in AAGAB underlie autosomal dominant punctate palmoplantar keratoderma

被引：2

作者：

Dinani, N. ^{[1
]}

Ali, M. ^{[1
]}

Liu, L. ^{[2
]}

McGrath, J. ^{[3
]}

Mellerio, J. ^{[2
]}

机构：

[1] Worthing Dist Hosp, Western Hosp NHS Trust, Dept Dermatol, Worthing BN11 2DH, W Sussex, England

[2] St Johns Inst Dermatol, Guys & St Thomas NHS Fdn Trust, London, England

[3] Kings Coll London, Genet Skin Dis Grp, Guys Campus, London, England

来源：

CLINICAL AND EXPERIMENTAL DERMATOLOGY | 2017年 / 42卷 / 03期

关键词：

BUSCHKE-FISCHER-BRAUER; CONFIRM;

D O I：

10.1111/ced.13049

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

Punctate palmoplantar keratoderma type 1 (PPPK1) is a rare autosomal dominant inherited skin disease, characterized by multiple hyperkeratotic lesions on the palms and soles. The causative gene for PPPK1 has been identified as AAGAB, which encodes alpha- and gamma- adaptin-binding protein p34. We describe the clinical features in three unrelated families with PPPK1, and report three recurrent causative mutations in AAGAB.

引用

页码：316 / 319

页数：4

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