Mutation Analysis of ECM1 Gene in Two Related Iranian Patients Affected by Lipoid Proteinosis

Mutation Analysis of ECM1 Gene in Two Related Iranian Patients Affected by Lipoid Proteinosis

Lipoid proteinosis (LP) is a rare autosomal recessive disorder caused by malfunction mutations in extracellular matrix protein 1 gene (ECM1) with common features such as hoarseness of the voice, infiltration of the skin and mucosa, and varying degrees of skin scars. We studied two LP patients. Clin...

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Bibliographic Details
Main Authors: Saeid Morovvati, Paniz Farshadyeganeh, Mojdeh Hamidizadeh, Ziba Morovvati, Samaneh Doost Mohammadi
Format: Article
Language:English
Published: Tehran University of Medical Sciences 2018-08-01
Series:Acta Medica Iranica
Subjects:
Extracellular matrix protein 1 gene
Lipoid proteinosis
Pathogenic and non-pathogenic
Mutations
Online Access:https://acta.tums.ac.ir/index.php/acta/article/view/6466

Internet

https://acta.tums.ac.ir/index.php/acta/article/view/6466

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