Extracellular matrix protein 1 gene (ECM1) mutations in nine Iranian families with lipoid proteinosis

Extracellular matrix protein 1 gene (ECM1) mutations in nine Iranian families with lipoid proteinosis

Background & objectives: Lipoid proteinosis (LP) is an autosomal recessive disease. Clinical characteristics of this disease are hoarse voice, scarring of the skin, brain calcifications, and eyelid papules (moniliform blepharosis). Mutations in the ECM1 gene on 1q21.2 are responsible for this di...

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Bibliographic Details
Main Authors: Farzad Izadi, Frouzandeh Mahjoubi, Mohammad Farhadi, Samira Kalayinia, Ali Bidmeshkipour, Mohammad Moein Tavakoli, Sara Samanian
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2016-01-01
Series:Indian Journal of Medical Research
Subjects:
disease - ECM1gene - lipoid proteinosis - mutation - pathogenic - sequencing
Online Access:http://www.ijmr.org.in/article.asp?issn=0971-5916;year=2016;volume=143;issue=3;spage=303;epage=307;aulast=Izadi

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http://www.ijmr.org.in/article.asp?issn=0971-5916;year=2016;volume=143;issue=3;spage=303;epage=307;aulast=Izadi

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