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VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: the first description of a VAX1 phenotype in humans.
Slavotinek AM, Chao R, Vacik T, Yahyavi M, Abouzeid H, Bardakjian T, Schneider A, Shaw G, Sherr EH, Lemke G, Youssef M, Schorderet DF. Slavotinek AM, et al. Among authors: schorderet df. Hum Mutat. 2012 Feb;33(2):364-8. doi: 10.1002/humu.21658. Epub 2011 Dec 27. Hum Mutat. 2012. PMID: 22095910 Free PMC article.
ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm.
Yahyavi M, Abouzeid H, Gawdat G, de Preux AS, Xiao T, Bardakjian T, Schneider A, Choi A, Jorgenson E, Baier H, El Sada M, Schorderet DF, Slavotinek AM. Yahyavi M, et al. Among authors: schorderet df. Hum Mol Genet. 2013 Aug 15;22(16):3250-8. doi: 10.1093/hmg/ddt179. Epub 2013 Apr 15. Hum Mol Genet. 2013. PMID: 23591992 Free PMC article.
A male with unilateral microphthalmia reveals a role for TMX3 in eye development.
Chao R, Nevin L, Agarwal P, Riemer J, Bai X, Delaney A, Akana M, JimenezLopez N, Bardakjian T, Schneider A, Chassaing N, Schorderet DF, FitzPatrick D, Kwok PY, Ellgaard L, Gould DB, Zhang Y, Malicki J, Baier H, Slavotinek A. Chao R, et al. Among authors: schorderet df. PLoS One. 2010 May 11;5(5):e10565. doi: 10.1371/journal.pone.0010565. PLoS One. 2010. PMID: 20485507 Free PMC article.
RAX and anophthalmia in humans: evidence of brain anomalies.
Abouzeid H, Youssef MA, Bayoumi N, ElShakankiri N, Marzouk I, Hauser P, Schorderet DF. Abouzeid H, et al. Among authors: schorderet df. Mol Vis. 2012;18:1449-56. Epub 2012 Jun 2. Mol Vis. 2012. PMID: 22736936 Free PMC article.
PAX6 aniridia and interhemispheric brain anomalies.
Abouzeid H, Youssef MA, ElShakankiri N, Hauser P, Munier FL, Schorderet DF. Abouzeid H, et al. Among authors: schorderet df. Mol Vis. 2009 Oct 17;15:2074-83. Mol Vis. 2009. PMID: 19862335 Free PMC article.
286 results