Lipoid proteinosis in a six-year-old child

Lipoid proteinosis (LiP) (OMIM 247100) is a rare autosomal recessive disease caused by loss of function mutations in the extracellular matrix protein 1 gene, ECM1, on chromosome 1q21. Clinically characterized by hoarseness in early infancy, followed by waxy papules and plaques on the face and body a...

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Bibliographic Details
Main Authors: Surajit Nayak (Author), Basanti Acharjya (Author)
Format: Book
Published: Wolters Kluwer Medknow Publications, 2012-01-01T00:00:00Z.
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3rd Floor Main Library

Holdings details from 3rd Floor Main Library
Call Number: A1234.567
Copy 1 Available