A novel start-loss mutation of the SLC29A3 gene in a consanguineous family with H syndrome: clinical characteristics, in silico analysis and literature review

• Hoofdauteurs: Nahid Rezaie (Auteur), Nader Mansour Samaei (Auteur), Ayda Ghorbani (Auteur), Naghmeh Gholipour (Auteur), Shohreh Vosough (Auteur), Mahboobeh Rafigh (Auteur), Abolfazl Amini (Auteur)
• Formaat: Boek
• Gepubliceerd in: BMC, 2024-07-01T00:00:00Z.
• Onderwerpen: article
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Abstract Background The SLC29A3 gene, which encodes a nucleoside transporter protein, is primarily located in intracellular membranes. The mutations in this gene can give rise to various clinical manifestations, including H syndrome, dysosteosclerosis, Faisalabad histiocytosis, and pigmented hypertr...