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Molecular analysis of FOXC1 in subjects presenting with severe developmental eye anomalies

PURPOSE: Haploinsufficiency through mutation or deletion of the forkhead transcription factor, FOXC1, causes Axenfeld-Rieger anomaly, which manifests as a range of anterior segment eye defects and glaucoma. The aim of this study is to establish whether mutation of FOXC1 contributes toward other deve...

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Detalles Bibliográficos
Autores principales: Kaur, Kulvinder, Ragge, Nicola K., Ragoussis, Jiannis
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2009
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2713731/
https://www.ncbi.nlm.nih.gov/pubmed/19626132