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Article

Evaluation of the norrie disease gene in a family with incontinentia pigmenti.

Ophthalmic research - 1 Jan 2000

Shastry B S, Trese M T

Abstract excerpt

Incontinentia pigmenti (IP) is an ectodermal multisystem disorder which can affect dental, ocular, cardiac and neurologic structures. The ocular changes of IP can have a very similar appearance to the retinal detachment of X-linked familial exudative vitreoretinopathy, which has been shown to be caused by the mutations in the Norrie disease gene. Therefore, it is of interest to determine whether similar mutations...

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Source

Identifiers

PMID: 10828739
DOI: 10.1159/000055610

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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