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
The molecular spectrum of Turkish osteopetrosis and related osteoclast disorders with natural history, including a candidate gene, CCDC120.
Tüysüz B et al.
Bone, 2023
Clinical, genetic aspects and molecular pathogenesis of osteopetrosis.
Nadyrshina DD et al.
Vavilovskii Zhurnal Genetiki I Selektsii, 2023
Dysosteosclerosis: Clinical and Radiological Evolution Reflecting Genetic Heterogeneity.
Turan S et al.
Jbmr Plus, 2022
Resolution of sclerotic lesions of dysosteosclerosis due to biallelic SLC29A3 variant in a Turkish girl.
Uludağ Alkaya D et al.
American Journal of Medical Genetics. Part A, 2021
Letter to the Editor: Dysosteosclerosis related to the unique mutation in SLC29A3.
Turan S
Bone, 2019
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