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Article

Norrie disease: extraocular clinical manifestations in 56 patients.

American journal of medical genetics. Part A - 1 Aug 2012

Smith Sharon E, Mullen Thomas E, Graham Dionne, Sims Katherine B, Rehm Heidi L

Abstract excerpt

Norrie disease (ND) is an X-linked recessive disorder characterized by congenital blindness, progressive sensorineural hearing loss and cognitive impairment. The ocular phenotype has been well described, while the extraocular manifestations of the disorder are not well understood. We present the data from the Norrie Disease Registry, which consists of 56 patients with detailed clinical histories and genotype...

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Identifiers

PMID: 22786811
DOI: 10.1002/ajmg.a.35469

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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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