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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...
Autores principales: | Bhatti, Shoaib, Jamil, Asma, Siddiqui, Samrah Hasan, Yaqoob, Uzair, Virk, Luqman Naseer, Bhatti, Areesh |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2018
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Materias: | |
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 |
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