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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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Dettagli Bibliografici
Pubblicato in:Genet Med
Autori principali: Raca, Gordana, Jackson, Craig A., Kucinskas, Laimutis, Warman, Berta, Shieh, Joseph T. C., Schneider, Adele, Bardakjian, Tanya M., Schimmenti, Lisa A.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2011
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Accesso online: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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