- The SLC29A3 variant, neutrophilic dermatosis, and hyperferritinemia imitate systemic juvenile idiopathic arthritis in a Saudi child: a case report
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Alansari S, Alsaleem A, Alzaid T, Galal M, Alyahya N, Al-Mayouf SM
- KMID: 2541057
- J Rheum Dis.
- 2023 Apr;30(2):133-137.
- doi: 10.4078/jrd.22.0054
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,... -
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