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OTX2 microphthalmia syndrome: four novel mutations and delineation of a phenotype

The OTX2 homeobox-containing transcription factor gene was shown to play a key role in the development of head structures in vertebrates. In humans, OTX2 mutations result in anophthalmia/microphthalmia (A/M) often associated with systemic anomalies. We screened fifty-two unrelated individuals affect...

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Hlavní autoři: Schilter, Kala, Schneider, Adele, Bardakjian, Tanya, Soucy, Jean-François, Tyler, Rebecca C., Reis, Linda M., Semina, Elena V.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2011
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3017659/
https://ncbi.nlm.nih.gov/pubmed/20486942
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1399-0004.2010.01450.x
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