Chronic granulomatous disease associated with Duchenne muscular dystrophy caused by Xp21.1 contiguous gene deletion syndrome: Case report and literature review

Chronic granulomatous disease (CGD) and Duchenne muscular dystrophy (DMD) are X-linked recessive disorders whose genes are 4.47 Mb apart within Xp21.1. A combination of both diseases is rare with only five cases reported in the literature where it is known as Xp21.1 “contiguous gene deletion syndrom...

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Detalles Bibliográficos
Autores principales: Bi, Shaohua, Dai, Liying, Jiang, Liangliang, Wang, Lili, Teng, Mia, Liu, Guanghui, Teng, Ru-Jeng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9880252/
https://www.ncbi.nlm.nih.gov/pubmed/36712874
http://dx.doi.org/10.3389/fgene.2022.970204

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