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
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix
An Egyptian family with H syndrome due to a novel mutation in SLC29A3 illustrating overlapping features with pigmented hypertrichotic dermatosis with insulin-dependent diabetes and Faisalabad histiocytosis.
Elbarbary NS et al.
Pediatric Diabetes, 2013
SLC29A3 mutation in a patient with syndromic diabetes with features of pigmented hypertrichotic dermatosis with insulin-dependent diabetes, H syndrome and Faisalabad histiocytosis.
de Jesus J et al.
Diabetes & Metabolism, 2013
Progressive hearing loss associated with a unique cervical node due to a homozygous SLC29A3 mutation: a very mild phenotype.
Jonard L et al.
European Journal of Medical Genetics, 2012
Early-onset sensorineural hearing loss is a prominent feature of H syndrome.
Ramot Y et al.
International Journal of Pediatric Otorhinolaryngology, 2010
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