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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...
में बचाया:
| में प्रकाशित: | Indian J Med Res |
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| मुख्य लेखकों: | , , , , , , |
| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
Medknow Publications & Media Pvt Ltd
2016
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| विषय: | |
| ऑनलाइन पहुंच: | 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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