Novel compound heterozygous mutations of ECM1 in a Chinese family with lipoid proteinosis

Novel compound heterozygous mutations of ECM1 in a Chinese family with lipoid proteinosis

Lipoid proteinosis (LP) is a rare autosomal recessive genodermatosis caused by mutations of the ECM1 gene. The common variations of the ECM1 gene are nonsense and missense mutations, and in rare instance, compound heterozygotes may occur. We describe two siblings of LP from a nonconsanguineous famil...

Full description

Bibliographic Details
Main Authors: Wei Wu, Jian-Qiang Shi, Ding Li, Fang-Gu Li, Yan-Xia Cai, Di-Qing Luo
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2019-01-01
Series:Dermatologica Sinica
Subjects:
Chinese
ECM1 gene
genodermatoses
lipoid proteinosis
mutation
Online Access:http://www.dermsinica.org/article.asp?issn=1027-8117;year=2019;volume=37;issue=2;spage=82;epage=85;aulast=Wu

Internet

http://www.dermsinica.org/article.asp?issn=1027-8117;year=2019;volume=37;issue=2;spage=82;epage=85;aulast=Wu

Similar Items