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Zic2-associated holoprosencephaly is caused by a transient defect in the organizer region during gastrulation

Warr, Nick; Powles-Glover, Nicola; Chappell, Anna; Robson, Joan; Norris, Dominic; Arkell, Ruth


The putative transcription factor ZIC2 is associated with a defect of forebrain development, known as Holoprosencephaly (HPE), in humans and mouse, yet the mechanism by which aberrant ZIC2 function causes classical HPE is unexplained. The zinc finger domain of all mammalian Zic genes is highly homologous with that of the Gli genes, which are transcriptional mediators of Shh signalling. Mutations in Shh and many other Hh pathway members cause HPE and it has been proposed that Zic2 acts within...[Show more]

CollectionsANU Research Publications
Date published: 2008
Type: Journal article
Source: Human Molecular Genetics
DOI: 10.1093/hmg/ddn197


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