A male with unilateral microphthalmia reveals a role for TMX3 in eye development.

A male with unilateral microphthalmia reveals a role for TMX3 in eye development.

Anophthalmia and microphthalmia are important birth defects, but their pathogenesis remains incompletely understood. We studied a patient with severe unilateral microphthalmia who had a 2.7 Mb deletion at chromosome 18q22.1 that was inherited from his mother. In-situ hybridization showed that one of...

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Bibliographic Details
Main Authors: Ryan Chao, Linda Nevin, Pooja Agarwal, Jan Riemer, Xiaoyang Bai, Allen Delaney, Matthew Akana, Nelson JimenezLopez, Tanya Bardakjian, Adele Schneider, Nicolas Chassaing, Daniel F Schorderet, David FitzPatrick, Pui-yan Kwok, Lars Ellgaard, Douglas B Gould, Yan Zhang, Jarema Malicki, Herwig Baier, Anne Slavotinek
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2010-05-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC2868029?pdf=render

Internet

http://europepmc.org/articles/PMC2868029?pdf=render

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