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Article

Redefining papillorenal syndrome: an underdiagnosed cause of ocular and renal morbidity.

Ophthalmology - 1 Apr 2001

Parsa C F, Silva E D, Sundin O H, Goldberg M F, De Jong M R, Sunness J S, Zeimer R, Hunter D G

Abstract excerpt

PURPOSE: To report ocular and renal findings specific to the inheritable entity called papillorenal (also known as renal-coloboma) syndrome and relate these to a common cause. DESIGN: Observational case series and genetic study. PARTICIPANTS: Two unrelated probands presenting with absent central...

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Source

Identifiers

PMID: 11297491
DOI: 10.1016/s0161-6420(00)00661-8

Genes

PAX2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026. Prepared record publication-11297491-2026-08-31.1. Manifest publication-graph-cohort-2026-08-31.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 31 Aug 2026.

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