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Chromosomal Duplication Involving the Forkhead Transcription Factor Gene FOXC1 Causes Iris Hypoplasia and Glaucoma

The forkhead transcription factor gene FOXC1 (formerly FKHL7) is responsible for a number of glaucoma phenotypes in families in which the disease maps to 6p25, although mutations have not been found in all families in which the disease maps to this region. In a large pedigree with iris hypoplasia an...

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Detalhes bibliográficos
Main Authors: Lehmann, Ordan J., Ebenezer, Neil D., Jordan, Tim, Fox, Margaret, Ocaka, Louise, Payne, Annette, Leroy, Bart P., Clark, Brian J., Hitchings, Roger A., Povey, Sue, Khaw, Peng T., Bhattacharya, Shomi S.
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2000
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1288555/
https://ncbi.nlm.nih.gov/pubmed/11007653
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