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
Cases with the H syndrome presenting with skin and bone findings.
Kose H et al.
The Australasian Journal of Dermatology, 2024
Equilibrative nucleotide transporter ENT3 (SLC29A3): A unique transporter for inherited disorders and cancers.
Ma H et al.
Experimental Cell Research, 2024
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
Skin-Dominant Phenotype in a Patient with H Syndrome: Identification of a Novel Mutation in the SLC29A3 Gene.
Vural S et al.
Cytogenetic and Genome Research, 2017
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