A novel FGFR2 gene mutation in Crouzon syndrome associated with apparent nonpenetrance. [electronic resource]
Producer: 20000111Description: 533-41 p. digitalISSN:- 1055-6656
- Cephalometry
- Craniofacial Dysostosis -- diagnostic imaging
- DNA Mutational Analysis
- Female
- Head -- diagnostic imaging
- Humans
- Male
- Mutation, Missense
- Pedigree
- Penetrance
- Polymerase Chain Reaction
- Radiography
- Receptor Protein-Tyrosine Kinases -- genetics
- Receptor, Fibroblast Growth Factor, Type 2
- Receptors, Fibroblast Growth Factor -- genetics
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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