Targeted 'Next-Generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations

BACKGROUND: Anophthalmia/microphthalmia (A/M) is caused by mutations in several different transcription factors, but mutations in each causative gene are relatively rare, emphasizing the need for a testing approach that screens multiple genes simultaneously. We used next-generation sequencing to scr...

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Detalhes bibliográficos
Main Authors: Lopez Jimenez, Nelson, Flannick, Jason, Yahyavi, Mani, Li, Jiang, Bardakjian, Tanya, Tonkin, Leath, Schneider, Adele, Sherr, Elliott H, Slavotinek, Anne M
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2011
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3262754/
https://ncbi.nlm.nih.gov/pubmed/22204637
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-12-172
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