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 erythem...

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Main Authors:	Khan, Md. Azraf Hossain, Reza, Md. Abu, Md. Sharaf, Ibrahim, Alam, Md. Jahangir, Rahman, Md. Mostafizur, Chandra, Pampa, Anwar, Kazi Selim, Salam, Md. Abdus
Format:	Article
Language:	en
Published:	Professional Medical Publications 2023
Subjects:	RL Dermatology
Online Access:	http://irep.iium.edu.my/104725/8/104725_Lipoid%20Proteinosis.pdf http://irep.iium.edu.my/104725/ https://www.pjms.org.pk/index.php/pjms/article/view/7437
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