Mutations of VMD2 Splicing Regulators Cause Nanophthalmos and Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC)

Yardley, Jill; P. Leroy, Bart; Hart‐Holden, Niki; A. Lafaut, B.; Loeys, Bart; Messiaen, Ludwine; Perveen, Rahat; Ashwin Reddy, M.; S. Bhattacharya, Shomi; I. Traboulsi, Elias; Baralle, Diana; De Laey, Jean‐Jacques; Puech, Bernard; Kestelyn, Philippe; T. Moore, Anthony; Manson, Forbes; C. Black, Graeme

doi:10.1167/iovs.04-0550

Public

Mutations of VMD2 Splicing Regulators Cause Nanophthalmos and Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC)

Published in Investigative Ophthalmology & Visual Science • Sep 27, 2004

Authors:

Jill Yardley

Bart P. Leroy

Niki Hart‐Holden

Abstract

PURPOSE: To investigate the genetic basis of autosomal dominant vitreoretinochoroidopathy (ADVIRC), a rare, inherited retinal dystrophy that may be associated with defects of ocular development, including nanophthalmos. METHODS: A combination of linkage analysis and DNA sequencing in five families w...

Subject

Missense mutation

Biology

Exon

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