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

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...

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Hlavní autoři: Morrison, D, FitzPatrick, D, Hanson, I, Williamson, K, van Heyningen, V, Fleck, B, Jones, I, Chalmers, J, Campbell, H
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Group 2002
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734963/
https://ncbi.nlm.nih.gov/pubmed/11826019
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.39.1.16
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