Article
A Novel Missense Mutation (L44V) of PAX2 Associated with Adult-Onset End-Stage Renal Disease and No Syndromic Features.
Annals of clinical and laboratory science - 1 Sept 2020
Oh Seung Hwan, Keum Changwon, Her Minyoung, Chung Woo Yeong, Kim Yeong Hoon, Kim Taehee
Abstract excerpt
Paired box (PAX) 2, encoded on chromosome 10 in humans, plays a key role in kidney development. The first 3 exons of the gene are highly conserved among species. PAX2 mutations in autosomal dominant papillorenal syndrome (OMIM #120330) are associated with congenital anomalies of the kidney, urinary tract, and eye. A 37-year-old male was admitted to our transplant center for kidney transplantation due to end-stage...
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