Steinberger, D

Crouzon syndrome: previously unrecognized deletion, duplication, and point mutation within FGFR2 gene. [electronic resource] - Human mutation 1996 - 386-90 p. digital

Publication Type: Case Reports; Journal Article

1059-7794

10.1002/(SICI)1098-1004(1996)8:4<386::AID-HUMU18>3.0.CO;2-Z doi


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