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

• Main Authors: Nahid Rezaie (Author), Nader Mansour Samaei (Author), Ayda Ghorbani (Author), Naghmeh Gholipour (Author), Shohreh Vosough (Author), Mahboobeh Rafigh (Author), Abolfazl Amini (Author)
• Format: Book
• Published: BMC, 2024-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...