Identification of a novel missense KRT86 mutation in a Chinese family with monilethrix.

Autor: Deng Y; National Office for Maternal and Child Health Surveillance of China, Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.; Laboratory of Molecular Epidemiology for Birth Defect, West China Institute of Women and Children's Health, Sichuan University, Chengdu, China.; Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China., Xia D; Department of Dermatology, Southwest Medical University Affiliated Hospital, Luzhou, China., Wang L; Department of Dermatology, The West China Hospital, Sichuan University, Chengdu, China., Li M; Department of Dermatology, The West China Hospital, Sichuan University, Chengdu, China., Li W; Department of Dermatology, The West China Hospital, Sichuan University, Chengdu, China.
Jazyk: angličtina
Zdroj: The Journal of dermatology [J Dermatol] 2018 Nov; Vol. 45 (11), pp. e298-e300. Date of Electronic Publication: 2018 Apr 27.
DOI: 10.1111/1346-8138.14339
Databáze: MEDLINE