Journal article
A child with an FGFR3 mutation, a laterality disorder and an hepatoblastoma: Novel associations and possible Gene–Environment interactions
Twin Research and Human Genetics, Vol.13(4), pp.297-300
2010
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.
Details
- Title
- A child with an FGFR3 mutation, a laterality disorder and an hepatoblastoma: Novel associations and possible Gene–Environment interactions
- Authors/Creators
- G.S. Baynam (Author/Creator) - School of Paediatrics and Child HealthJ. Goldblatt (Author/Creator) - School of Paediatrics and Child Health
- Publication Details
- Twin Research and Human Genetics, Vol.13(4), pp.297-300
- Publisher
- Cambridge University Press
- Identifiers
- 991005541104607891
- Copyright
- © 2010 Cambridge University Press
- Murdoch Affiliation
- Murdoch University
- Language
- English
- Resource Type
- Journal article
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Source: InCites
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- Collaboration types
- Domestic collaboration
- Citation topics
- 1 Clinical & Life Sciences
- 1.132 Extracellular Matrix & Cell Differentiation
- 1.132.1265 Craniosynostosis & FGFR
- Web Of Science research areas
- Genetics & Heredity
- Obstetrics & Gynecology
- ESI research areas
- Molecular Biology & Genetics