National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology

R. Morrison, Daniel; FitzPatrick, D; Hanson, I; Williamson, K; van Heyningen, V; Fleck, B; Jones, I; Chalmers, J; Campbell, H

doi:10.1136/jmg.39.1.16

Public

National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology

Published in Journal of Medical Genetics • Jan 1, 2002

Authors:

Daniel R. Morrison

D FitzPatrick

I Hanson

Abstract

We report an epidemiological and genetic study attempting complete ascertainment of subjects with microphthalmia, anophthalmia, and coloboma (MAC) born in Scotland during a 16 year period beginning on 1 January 1981. A total of 198 cases were confirmed giving a minimum live birth prevalence of 19 pe...

Subject

Anophthalmia

Microphthalmia

Coloboma

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