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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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Xehetasun bibliografikoak
Argitaratua izan da:J Pediatr Genet
Egile Nagusiak: El-Bassyouni, Hala T., Thomas, Manal M., Tosson, Angie M.S.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Georg Thieme Verlag KG 2020
Sarrera elektronikoa: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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