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Article

A clinico-genetic study of renal coloboma syndrome in children.

Pediatric nephrology (Berlin, Germany) - 1 Sept 2007

Cheong Hae Il, Cho Hee Yeon, Kim Jeong Hun, Yu Young Suk, Ha Il Soo, Choi Yong

Abstract excerpt

Renal coloboma syndrome (RCS) is an autosomal dominant disorder caused by PAX2 gene mutations and characterized by renal hypoplasia and optic disc coloboma. The clinical findings were retrospectively reviewed, and all coding regions of the PAX2 gene were sequenced, in six children with RCS. A c.619_620insG mutation was detected in five patients, including two siblings, and a novel p.Arg104X mutation was detected...

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Source

Identifiers

PMID: 17541647
DOI: 10.1007/s00467-007-0525-z

Genes

PAX2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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