Novel variants in ABCA12 cause erythrokeratodermia variabilis

Br J Dermatol. 2024 Feb 16;190(3):454. doi: 10.1093/bjd/ljad494.

Authors

Yihe Liu¹, Ran Mo¹, Zhiming Chen¹, Yong Yang¹

Affiliation

¹ Genetic Skin Disease Center, Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Hospital for Skin Diseases, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, Jiangsu, China.

PMID: 38085035
DOI: 10.1093/bjd/ljad494

No abstract available

MeSH terms

ATP-Binding Cassette Transporters
Connexins / genetics
Erythrokeratodermia Variabilis* / genetics
Humans
Mutation / genetics

Substances

Connexins
ABCA12 protein, human
ATP-Binding Cassette Transporters

Grants and funding

2021-1-I2M-018/Chinese Academy of Medical Sciences