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H Syndrome: Report of The First Case in African Ethnicity

H syndrome is an autosomal recessive multisystemic disease with a very low prevalence rate, characterized by indurated cutaneous hyperpigmentation, hypertrichosis, and various systemic manifestations. The syndrome is caused by mutations in SLC29A3 gene on chromosome 10q23, encoding for human equilib...

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Detalles Bibliográficos
Autores principales: Elmansour, Osama Khder Ahmed, Babikir, Ahmed Osama Ahmed
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9012590/
https://www.ncbi.nlm.nih.gov/pubmed/35449643
http://dx.doi.org/10.7759/cureus.23281