Llwytho...

Congenital aniridia: etiology, manifestations and management

Congenital aniridia manifests as total or partial absence of the iris caused most commonly by mutations in PAX6, FOXC1, PITX2, and CYP1B1. Recently two new genes, FOXD3 and TRIM44, have also been implicated in isolated studies. We discuss the genotype-phenotype correlations for the main implicated g...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Expert Rev Ophthalmol
Prif Awduron: Samant, Monica, Chauhan, Bharesh K., Lathrop, Kira L., Nischal, Ken K.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2016
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6086384/
https://ncbi.nlm.nih.gov/pubmed/30100922
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1586/17469899.2016.1152182
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