Brief Report: VAX1 mutation associated with microphthalmia, corpus callosum agenesis and orofacial clefting – the first description of a VAX1 phenotype in humans

Vax1 and Vax2 have been implicated in eye development and the closure of the choroid fissure in mice and zebrafish. We sequenced the coding exons of VAX1 and VAX2 in 70 patients with anophthalmia/microphthalmia. In VAX1, we observed homozygosity for two successive nucleotide substitutions c.453G>...

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Hlavní autoři: Slavotinek, Anne M., Chao, Ryan, Vacik, Tomas, Yahyavi, Mani, Abouzeid, Hana, Bardakjian, Tanya, Schneider, Adele, Shaw, Gary, Sherr, Elliott H., Lemke, Greg, Youssef, Mohammed, Schorderet, Daniel F.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2011
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3401628/
https://ncbi.nlm.nih.gov/pubmed/22095910
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21658
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