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Article

Norrie disease in a family with a manifesting female carrier.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Apr 1997

Sims K B, Irvine A R, Good W V

Abstract excerpt

OBJECTIVES: To show that Norrie disease can occur in a girl and to describe her ophthalmologic and genetic features. METHODS: Amplification of DNA polymerase chain reaction and sequencing of asymmetric polymerase chain reaction for exon 3 were performed on the blood specimen obtained from a girl...

Topics

Blindness
Developmental Disabilities
Exons
Female
Heterozygote
Humans
Infant
Mutation
Nervous System Diseases
Retinal Detachment
Retinal Diseases
X Chromosome

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Source

Identifiers

PMID: 9109762
DOI: 10.1001/archopht.1997.01100150519012

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9109762-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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