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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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Bibliografiset tiedot
Julkaisussa:J Pediatr Genet
Päätekijät: El-Bassyouni, Hala T., Thomas, Manal M., Tosson, Angie M.S.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Georg Thieme Verlag KG 2020
Linkit: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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