A Sporadic Family of Lipoid Proteinosis with Novel < em > ECM1 < /em > Gene Mutations

Clin Cosmet Investig Dermatol. 2024 Apr 18;17:885-889. doi: 10.2147/CCID.S452127. eCollection 2024.ABSTRACTLipoid proteinosis (LP) is an uncommon, autosomal recessive genetic disorder. Multigene panel testing was conducted to confirm the diagnosis of a sporadic family with suspected LP. In the proband, we identified two mutations of ECMI and provided genetic evidence for informed genetic counselling.PMID:38651074 | PMC:PMC11034508 | DOI:10.2147/CCID.S452127

Source: Clinical, Cosmetic and Investigational Dermatology - April 23, 2024 Category: Dermatology Authors: Yu-Ling Liu Zeng-Yun-Ou Zhang Xiao-Mei Chen Source Type: research