Clinical and molecular characterization of lipoid proteinosis in three Indian families

Clinical and molecular characterization of lipoid proteinosis in three Indian families

Background: Lipoid proteinosis (LP) is a rare autosomal recessive disorder characterized by deposition of hyaline material in the skin, mucous membrane, and multiple organs resulting in varied manifestations such as scarring and thickening of the skin, beaded papules, and hoarseness of voice. It res...

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Bibliographic Details
Main Authors: Sahana M Srinivas, Madhuri Maganthi, Priya Jeevamani Chandrasekaran, Aruna Gowdra, Raghupathy Palany
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2020-01-01
Series:Indian Journal of Paediatric Dermatology
Subjects:
autosomal recessive
ecm1 gene
lipoid proteinosis
novel mutation
Online Access:http://www.ijpd.in/article.asp?issn=2319-7250;year=2020;volume=21;issue=3;spage=167;epage=173;aulast=Srinivas

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http://www.ijpd.in/article.asp?issn=2319-7250;year=2020;volume=21;issue=3;spage=167;epage=173;aulast=Srinivas

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