Mutation of SALL2 causes recessive ocular coloboma in humans and mice

Mutation of SALL2 causes recessive ocular coloboma in humans and mice

Ocular coloboma is a congenital defect resulting from failure of normal closure of the optic fissure during embryonic eye development. This birth defect causes childhood blindness worldwide, yet the genetic etiology is poorly understood. Here, we identified a novel homozygous mutation in the SALL2 g...

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Bibliographic Details
Main Authors: Kelberman, Daniel, Islam, Lily, Lakowski, Jörn, Bacchelli, Chiara, Chanudet, Estelle, Lescai, Francesco, Patel, Aara, Stupka, Elia, Buck, Anja, Wolf, Stephan, Beales, Philip L., Jacques, Thomas S., Bitner-Glindzicz, Maria, Liasis, Alki, Lehmann, Ordan J., Kohlhase, Jürgen, Nischal, Ken K., Sowden, Jane C.
Format: Online
Language:English
Published: Oxford University Press 2014
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3990155/

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