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PAX2 and the Renal-Coloboma Syndrome 

PAX2 and the Renal-Coloboma Syndrome
Chapter:
PAX2 and the Renal-Coloboma Syndrome
Author(s):

Michael R. Eccles

, Matthew Bower

, and Lisa A. Schimmenti

DOI:
10.1093/med/9780199934522.003.0110
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date: 07 March 2021

The renal-coloboma syndrome (RCS), also known as papillo-renal syndrome (OMIM #120330), is a rare developmental disorder inherited as an autosomal dominant trait and characterized by kidney abnormalities (including small kidneys with predisposition to renal insufficiency), and eye abnormalities (predominantly abnormalities of the optic nerve head and/or retina) (Eccles & Schimmenti, 1999). Causative mutations occur in the Paired box 2 (PAX2) gene, which encodes the second member of the Paired box gene family (Sanyanusin et al., 1995).

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