Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia

PURPOSE: Mutations in the SOX2 and CHX10 genes have been reported in patients with anophthalmia and/or microphthalmia. In this study, we evaluated 34 anophthalmic/microphthalmic patient DNA samples (two sets of siblings included) for mutations and sequence variants in SOX2 and CHX10. METHODS: Confor...

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Detalles Bibliográficos
Autores principales: Zhou, Jie, Kherani, Femida, Bardakjian, Tanya M., Katowitz, James, Hughes, Nkecha, Schimmenti, Lisa A., Schneider, Adele, Young, Terri L.
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2008
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2275209/
https://www.ncbi.nlm.nih.gov/pubmed/18385794

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2275209/
https://www.ncbi.nlm.nih.gov/pubmed/18385794

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