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Array Comparative Genomic Hybridization (aCGH) Analysis in Patients with Anophthalmia, Microphthalmia and Coloboma

PURPOSE: The goal of our study was to determine whether genomic copy number abnormalities (deletions and duplications) affecting genes involved in eye development contribute to the etiology of anophthalmia, microphthalmia and coloboma. METHODS: The affected individuals were tested for deletions and...

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Detalhes bibliográficos
Publicado no:Genet Med
Main Authors: Raca, Gordana, Jackson, Craig A., Kucinskas, Laimutis, Warman, Berta, Shieh, Joseph T. C., Schneider, Adele, Bardakjian, Tanya M., Schimmenti, Lisa A.
Formato: Artigo
Idioma:Inglês
Publicado em: 2011
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4237064/
https://ncbi.nlm.nih.gov/pubmed/21285886
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/GIM.0b013e318204cfd2
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