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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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| Publicado no: | Indian J Med Res |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Medknow Publications & Media Pvt Ltd
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4892076/ https://ncbi.nlm.nih.gov/pubmed/27241643 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/0971-5916.182620 |
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