LAUSR

Glomerular involvement in children with H syndrome

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1 Published in 2021 at "Pediatric Nephrology"

DOI: 10.1007/s00467-020-04860-5

Abstract: Background H syndrome is a multisystem inflammatory disease caused by mutations in the SLC29A3 gene (OMIM #602782). The protein product, hENT3, is a nucleoside transporter essential for DNA salvage synthesis. Clinical manifestations are hyperpigmentation, hypertrichosis,… read more here.

Keywords: involvement children; nephrology; glomerular involvement; children syndrome ... See more keywords