Crouzon syndrome: previously unrecognized deletion, duplication, and point mutation within FGFR2 gene. [electronic resource]
Producer: 19970328Description: 386-90 p. digitalISSN:- 1059-7794
- Base Sequence
- Child
- Chromosome Mapping
- Chromosomes, Human, Pair 10
- Craniofacial Dysostosis -- genetics
- Exons
- Female
- Genes, Dominant
- Humans
- Male
- Multigene Family
- Pedigree
- Point Mutation
- Receptor Protein-Tyrosine Kinases -- genetics
- Receptor, Fibroblast Growth Factor, Type 2
- Receptors, Fibroblast Growth Factor -- genetics
- Sequence Deletion
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Publication Type: Case Reports; Journal Article
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