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
收藏
页码：1171 / 1173
页数：3
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