Unique Mutation in SP110 Resulting in Hepatic Veno-Occlusive Disease with Immunodeficiency

Familial hepatic veno-occlusive disease with immunodeficiency (VODI, OMIM: 235550) is a rare form of combined immune deficiency (CID) that presents in the first few months of life with failure to thrive, recurrent infections, opportunistic infections along with liver impairment. Herein, we are descr...

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Detalles Bibliográficos
Autores principales: Hamdoun, Osama, Al Mulla, Asia, Al Zaabi, Shamma, Shendi, Hiba, Al Ghamdi, Sharifa, Hertecant, Jozef, Al-Shibli, Amar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7199573/
https://www.ncbi.nlm.nih.gov/pubmed/32395362
http://dx.doi.org/10.1155/2020/3460631

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