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The SLC29A3 variant, neutrophilic dermatosis, and hyperferritinemia imitate systemic juvenile idiopathic arthritis in a Saudi child: a case report

Genetic defects of SLC29A3 result in a wide range of syndromic histiocytosis that encompasses H syndrome. Patients with SLC29A3 variants typically have hyperpigmentation, hypertrichosis, hepatosplenomegaly, sensorineural hearing loss, diabetes mellitus, and hypogonadism. Herein, we identify a novel...

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Detalles Bibliográficos
Autores principales: Alansari, Shahad, Alsaleem, Alhanouf, Alzaid, Tariq, Galal, Maad, Alyahya, Noura, Al-Mayouf, Sulaiman M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean College of Rheumatology 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10324931/
https://www.ncbi.nlm.nih.gov/pubmed/37483481
http://dx.doi.org/10.4078/jrd.22.0054