Case series: Pyramidal cataracts, intact irides and nystagmus from three novel PAX6 mutations

PURPOSE: To investigate the association between novel PAX6 mutations to bilateral anterior pyramidal congenital cataracts (APyC), complete and intact irides, and nystagmus. OBSERVATIONS: This is a retrospective observational case series in a multi-center setting with genetic testing. Three female pa...

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Detaylı Bibliyografya
Yayımlandı:Am J Ophthalmol Case Rep
Asıl Yazarlar: Chauhan, Bharesh K., Medsinge, Anagha, Baumgartner, Matthew P., Scanga, Hannah L., Kamakari, Smaragda, Gajdosova, Eva, Camacho, Carlos J., Nischal, Ken K.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Elsevier 2018
Konular:
Brief report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5956696/
https://ncbi.nlm.nih.gov/pubmed/29780932
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajoc.2018.02.021
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