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Article

Genetic heterogeneity of butterfly-shaped pigment dystrophy of the fovea.

Molecular vision - 24 Apr 2003

van Lith-Verhoeven Janneke J C, Cremers Frans P M, van den Helm Bellinda, Hoyng Carel B, Deutman August F

Abstract excerpt

PURPOSE: Butterfly-shaped macular dystrophy (BSMD) has so far only been associated with mutations in the peripherin/RDS gene. The initial aim of our study was to investigate the peripherin/RDS gene as the causative gene in a family with BSMD. Subsequently the putative involvement of the ROM-1 gen...

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PMID: 12724643

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12724643-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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