A patient with familial Flegel disease caused by a novel splicing variant in SPTLC1

Clin Exp Dermatol. 2023 Jun 5;48(6):693-695. doi: 10.1093/ced/llad061.

Authors

Ruzeng Xue¹, Qing Cheng¹, Ming Li¹, Sha Peng¹, Lina Liang¹, Mao-Ying Lin², Huijun Wang¹, Zhimiao Lin^{1

2

3}

Affiliations

¹ Dermatology Hospital, Southern Medical University, Guangzhou, China.
² Department of Dermatology, Xiamen Chang Gung Hospital, Xiamen, China.
³ Department of Dermatology, Peking University First Hospital; Beijing Key Laboratory of Molecular Diagnosis on Dermatoses; National Clinical Research Center for Skin and Immune Diseases, Beijing, China.

PMID: 36787281
DOI: 10.1093/ced/llad061

No abstract available

MeSH terms

Humans
Keratosis*
Serine C-Palmitoyltransferase

Substances

SPTLC1 protein, human
Serine C-Palmitoyltransferase

Supplementary concepts

Hyperkeratosis lenticularis perstans