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The genetic architecture of aniridia and Gillespie syndrome

Absence of part or all of the iris, aniridia, is a feature of several genetically distinct conditions. This review focuses on iris development and then the clinical features and molecular genetics of these iris malformations. Classical aniridia, a panocular eye malformation including foveal hypoplas...

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Shranjeno v:
Bibliografske podrobnosti
izdano v:Hum Genet
Main Authors: Hall, Hildegard Nikki, Williamson, Kathleen A., FitzPatrick, David R.
Format: Artigo
Jezik:Inglês
Izdano: Springer Berlin Heidelberg 2018
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC6710220/
https://ncbi.nlm.nih.gov/pubmed/30242502
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-018-1934-8
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