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Article

Atypical presentation of pattern dystrophy in two families with peripherin/RDS mutations.

Ophthalmology - 1 Jun 2002

Grover Sandeep, Fishman Gerald A, Stone Edwin M

Abstract excerpt

PURPOSE: To describe the atypical clinical presentations of pattern dystrophy (PD) in two unrelated families with novel peripherin/RDS mutations. DESIGN: Observational case reports and family genetic study with review of peripherin/RDS mutations. PARTICIPANTS: Affected and unaffected members of two families with PD. METHODS: The probands of two families, as well as other family members, underwent an...

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Identifiers

PMID: 12045052
DOI: 10.1016/s0161-6420(02)01029-1

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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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Atypical presentation of pattern dystrophy in two families with peripherin/RDS mutations.PMID 12045052Read ↗

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