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
A Turkish girl with H syndrome: stunted growth and development of autoimmune insulin dependent diabetes mellitus in the 6th year of diagnosis.
Ozlu C et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2019
Identification of a novel mutation in solute carrier family 29, member 3 in a Chinese patient with H syndrome.
Liu JW et al.
Chinese Medical Journal, 2015
Agenesis of the inferior vena cava in H syndrome due to a novel SLC29A3 mutation.
Mutlu GY et al.
Pediatric Dermatology, 0
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