Article
A male with unilateral microphthalmia reveals a role for TMX3 in eye development.
PloS one - 11 May 2010
Chao Ryan, Nevin Linda, Agarwal Pooja, Riemer Jan, Bai Xiaoyang, Delaney Allen, Akana Matthew, JimenezLopez Nelson, Bardakjian Tanya, Schneider Adele, Chassaing Nicolas, Schorderet Daniel F, FitzPatrick David, Kwok Pui-yan, Ellgaard Lars, Gould Douglas B, Zhang Yan, Malicki Jarema, Baier Herwig, Slavotinek Anne
Abstract excerpt
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 the deleted genes, TMX3, was expressed in the retinal neuroepithelium and lens epithelium in the developing murine...
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