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Article

Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.

Ophthalmology - 1 Jun 2013

Roosing Susanne, van den Born L Ingeborgh, Hoyng Carel B, Thiadens Alberta A H J, de Baere Elfride, Collin Rob W J, Koenekoop Robert K, Leroy Bart P, van Moll-Ramirez Norka, Venselaar Hanka, Riemslag Frans C C, Cremers Frans P M, Klaver Caroline C W, den Hollander Anneke I

Abstract excerpt

PURPOSE: The majority of the genetic causes of autosomal recessive (ar) cone dystrophy (CD) and cone-rod dystrophy (CRD) are currently unknown. We used a high-resolution homozygosity mapping approach in a cohort of patients with CD or CRD to identify new genes for ar cone disorders. DESIGN: Case series. PARTICIPANTS: A cohort of 159 patients with ar CD and 91 patients with CRD. METHODS: The genomes of 83 patients...

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Source

Identifiers

PMID: 23499059
DOI: 10.1016/j.ophtha.2012.12.005

Genes

TULP1
ERG

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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