Two novel mutations in SASH1 identified in a familial and a sporadic generalized lentiginosis phenotype in Koreans

被引：2

作者：

Kim, Jae Yeon ^{[1
]}

Kwon, Il Joo ^{[1
]}

Lee, Sang Eun ^{[1
]}

机构：

[1] Yonsei Univ, Coll Med, Gangnam Severance Hosp, Dept Dermatol,Cutaneous Biol Res Inst, Seoul, South Korea

来源：

CLINICAL AND EXPERIMENTAL DERMATOLOGY | 2023年 / 48卷 / 10期

关键词：

PIGMENTATION;

D O I：

10.1093/ced/llad199

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

Here, we report two novel mutations in SASH1 (p.S510C and p.T525I) identified, respectively, in a family with nonsyndromic generalized lentiginosis, and in a sporadic case with early onset of multiple lentigines on the face and hypomelanosis of Ito in Koreans. Our findings will expand the spectrum of SASH1 mutations in a familial and a sporadic lentiginosis phenotype.

引用

页码：1171 / 1173

页数：3