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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Bibliografiska uppgifter
Huvudupphovsmän: Zhou, Jie, Kherani, Femida, Bardakjian, Tanya M., Katowitz, James, Hughes, Nkecha, Schimmenti, Lisa A., Schneider, Adele, Young, Terri L.
Materialtyp: Artigo
Språk:Inglês
Publicerad: Molecular Vision 2008
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Research Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC2275209/
https://ncbi.nlm.nih.gov/pubmed/18385794
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