Heterozygous Mutations of OTX2 Cause Severe Ocular Malformations

Major malformations of the human eye, including microphthalmia and anophthalmia, are examples of phenotypes that recur in families yet often show no clear Mendelian inheritance pattern. Defining loci by mapping is therefore rarely feasible. Using a candidate-gene approach, we have identified heteroz...

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Detalhes bibliográficos
Main Authors: Ragge, Nicola K., Brown, Alison G., Poloschek, Charlotte M., Lorenz, Birgit, Henderson, R. Alex, Clarke, Michael P., Russell-Eggitt, Isabelle, Fielder, Alistair, Gerrelli, Dianne, Martinez-Barbera, Juan Pedro, Ruddle, Piers, Hurst, Jane, Collin, J. Richard O., Salt, Alison, Cooper, Simon T., Thompson, Pamela J., Sisodiya, Sanjay M., Williamson, Kathleen A., FitzPatrick, David R., Heyningen, Veronica van, Hanson, Isabel M.
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2005
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1196439/
https://ncbi.nlm.nih.gov/pubmed/15846561
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