Extracellular Matrix Protein 1 Gene Mutation in Turkish Patients with Lipoid Proteinosis

BACKGROUND: Lipoid proteinosis (LP) is a rare autosomal recessive genodermatosis characterized by mucocutaneous lesions and hoarseness of voice that develop in early childhood. LP is caused by mutation in the extracellular matrix protein 1 (ECM1) gene, which is located on 1q21.2. AIMS: This study ai...

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Detalles Bibliográficos
Autores principales: Dertlioğlu, Selma Bakar, Edgünlü, Tuba Gökdoğan, Şen, Deniz Erol, Süzek, Tuğba Önal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2019
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6862362/
https://www.ncbi.nlm.nih.gov/pubmed/31896839
http://dx.doi.org/10.4103/ijd.IJD_365_18

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6862362/
https://www.ncbi.nlm.nih.gov/pubmed/31896839
http://dx.doi.org/10.4103/ijd.IJD_365_18

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