Lipoid Proteinosis: Identification of a Novel Nonsense Mutation c.1246C>T:p.R416X in ECM1 gene from Bangladesh

Lipoid proteinosis is a rare multisystem genodermatosis inherited as autosomal recessive trait. We report a case of lipoid proteinosis in a 10-year-old boy born to first-degree consanguineous parents presented with marked hoarseness of voice, accelerated photoaging appearance, enlarged and erythemat...

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Detalles Bibliográficos
Autores principales: Khan, Md. Azraf Hossain, Reza, Md. Abu, Sharaf, Ibrahim Md., Alam, Md. Jahangir, Rahman, Md. Mostafizur, Chandra, Pampa, Anwar, Kazi Selim, Salam, Md. Abdus
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Professional Medical Publications 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10364261/
https://www.ncbi.nlm.nih.gov/pubmed/37492299
http://dx.doi.org/10.12669/pjms.39.4.7437

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