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A child with an FGFR3 mutation, a laterality disorder and an hepatoblastoma: Novel associations and possible Gene–Environment interactions

Baynam, G.S. and Goldblatt, J. (2010) A child with an FGFR3 mutation, a laterality disorder and an hepatoblastoma: Novel associations and possible Gene–Environment interactions. Twin Research and Human Genetics, 13 (4). pp. 297-300.

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Link to Published Version: http://dx.doi.org/10.1375/twin.13.4.297
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Abstract

We report on a 3-year-old girl, from a 3-generation family with an FGFR3 Pro250Arg mutation, who in addition to craniosynostosis, had a laterality disorder and hepatoblastoma, following a pregnancy complicated by maternal insulin-dependent diabetes. The clinical features possibly result from the combined effects of the maternal diabetes and the familial FGFR3 mutation, thus representing a unique gene–environment interaction that may have implications for the understanding of the phenotypes described in this child.

Publication Type: Journal Article
Publisher: Cambridge University Press
Copyright: © 2010 Cambridge University Press
URI: http://researchrepository.murdoch.edu.au/id/eprint/25228
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