The H Syndrome: A Genodermatosis

H syndrome (histiocytosis lymph adenopathy plus syndrome) is an autosomal recessive disorder caused by mutations in the SLC29A3 gene, encoding the human equilibrative nucleoside transporter (hENT3), characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, hearing loss, he...

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Detalles Bibliográficos
Autores principales: Bhatti, Shoaib, Jamil, Asma, Siddiqui, Samrah Hasan, Yaqoob, Uzair, Virk, Luqman Naseer, Bhatti, Areesh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2018
Materias:
Internal Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6082582/
https://www.ncbi.nlm.nih.gov/pubmed/30101042
http://dx.doi.org/10.7759/cureus.2763

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6082582/
https://www.ncbi.nlm.nih.gov/pubmed/30101042
http://dx.doi.org/10.7759/cureus.2763

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