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Mutation in the SLC29A3 Gene in an Egyptian Patient with H Syndrome: A Case Report and Review of Literature
Histiocytosis-lymphadenopathy plus syndrome (H syndrome) is caused by mutations in the SLC29A3 gene that result in histiocytic infiltration of numerous organs. Patients suffering from this disorder can be easily mistaken for similar conditions such as Muckle–Wells syndrome. We present a 9.5-year-old...
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| Publicado no: | J Pediatr Genet |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Georg Thieme Verlag KG
2020
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| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7183402/ https://ncbi.nlm.nih.gov/pubmed/32341814 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0039-1697900 |
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