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
A novel start-loss mutation of the SLC29A3 gene in a consanguineous family with H syndrome: clinical characteristics, in silico analysis and literature review.
Rezaie N et al.
Bmc Medical Genomics, 2024
Clinical Progression and Manifestations of H Syndrome: A Case Report of Failed Treatment Option.
Al-Haddab M et al.
The American Journal of Case Reports, 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
A novel homozygous frame-shift mutation in the SLC29A3 gene: a new case report and review of literature.
Noavar S et al.
Bmc Medical Genetics, 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
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
Functional outcome of a novel SLC29A3 mutation identified in a patient with H syndrome.
Huber-Ruano I et al.
Biochemical and Biophysical Research Communications, 2012
A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant.
Bolze A et al.
Plos One, 2012
Compound heterozygous SLC29A3 mutation causes H syndrome in a Moroccan patient: A case report.
Bakhchane A et al.
Current Research in Translational Medicine, 0
H syndrome: A histiocytosis-lymphadenopathy plus syndrome. A comprehensive review of the literature.
Hamad A et al.
Hematology/oncology and Stem Cell Therapy, 0
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