Associated Papers
Clinicogenetic characterisation of SLC29A3-related syndromes: a case series, tracing ancestral variants and molecular dynamics simulation.
Biglari S et al.
Journal of Medical Genetics, 2025
Phenotypic intrafamilial variability including H syndrome and Rosai-Dorfman disease associated with the same c.1088G > A mutation in the SLC29A3 gene.
Chouk H et al.
Human Genomics, 2021
Case of H syndrome with massive skin involvement, retroperitoneal fibrosis and Raynaud's phenomenon with a novel mutation in the SLC29A3 gene.
Fujita E et al.
The Journal of Dermatology, 2015
H syndrome: a multifaceted histiocytic disorder with hyperpigmentation and hypertrichosis.
Tekin B et al.
Acta Dermato-venereologica, 2015
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