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Article

Norrie-Warburg syndrome: two novel mutations in patients with classical clinical phenotype.

Acta ophthalmologica Scandinavica. Supplement - 1 Jan 1996

Gal A, Veske A, Jojart G, Grammatico B, Huber B, Gu S, del Porto G, Senyi K

Abstract excerpt

Norrie-Warburg syndrome (NWS) is a rare X-linked disorder characterized by blindness, which is invariable, deafness and mental disturbances, which are present occasionally. We describe here two novel mutations, a missense mutation (C126S) and a 1-base pair insertion (insT466/T467), together with...

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Identifiers

PMID: 8741107
DOI: 10.1111/j.1600-0420.1996.tb00374.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-8741107-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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