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
Pigmented Hypertrichosis with Insulin-Dependent Diabetes Mellitus Syndrome: A Case Series.
Jacobs A et al.
Hormone Research in Paediatrics, 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
Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants.
Jiali C et al.
Frontiers in Genetics, 2024
H syndrome treated with Tocilizumab: two case reports and literature review.
Jacquot R et al.
Frontiers in Immunology, 2023
Hearing loss in Africa: current genetic profile.
Adadey SM et al.
Human Genetics, 2022
Novel Genomic Variants, Atypical Phenotypes and Evidence of a Digenic/Oligogenic Contribution to Disorders/Differences of Sex Development in a Large North African Cohort.
Zidoune H et al.
Frontiers in Genetics, 2022
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
Patient with H syndrome, cardiogenic shock, multiorgan infiltration, and digital ischemia.
Ventura-Espejo L et al.
Pediatric Rheumatology Online Journal, 2021
H syndrome: Clinical, histological and genetic investigation in Tunisian patients.
Jaouadi H et al.
The Journal of Dermatology, 2018
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
H syndrome: the first 79 patients.
Molho-Pessach V et al.
Journal of the American Academy of Dermatology, 2014
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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