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A novel homozygous frame-shift mutation in the SLC29A3 gene: a new case report and review of literature

29 Aug 2019

Abstract excerpt

BACKGROUND: The SLC29A3 gene, encoding a nucleoside transporter protein, is found in intracellular membranes. Based on the literatures, mutations in this gene cause a wide range of clinical manifestations including H syndrome, pigmented hypertrichosis with insulin dependent diabetes, Faisalabad histiocytosis, and dysosteosclerosis. However, all these disorders with their different names and terminologies are...

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PMID: 31464584
DOI: 10.1186/s12881-019-0879-7

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