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

• Main Authors: Wei Wu (Author), Jian-Qiang Shi (Author), Ding Li (Author), Fang-Gu Li (Author), Yan-Xia Cai (Author), Di-Qing Luo (Author)
• Format: Book
• Published: Wolters Kluwer Medknow Publications, 2019-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...