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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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Detalhes bibliográficos
Main Authors: Nayak, Surajit, Acharjya, Basanti
Formato: Artigo
Idioma:Inglês
Publicado em: Medknow Publications & Media Pvt Ltd 2012
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3481908/
https://ncbi.nlm.nih.gov/pubmed/23130256
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/2229-5178.93490
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