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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Detalles Bibliográficos
Autores principales: Izadi, Farzad, Mahjoubi, Frouzandeh, Farhadi, Mohammad, Kalayinia, Samira, Bidmeshkipour, Ali, Tavakoli, Mohammad Moein, Samanian, Sara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2016
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4892076/
https://www.ncbi.nlm.nih.gov/pubmed/27241643
http://dx.doi.org/10.4103/0971-5916.182620

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4892076/
https://www.ncbi.nlm.nih.gov/pubmed/27241643
http://dx.doi.org/10.4103/0971-5916.182620

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