Crouzon syndrome: previously unrecognized deletion, duplication, and point mutation within FGFR2 gene.
Steinberger
D
D
Institut für Humangenetik, Justus-Liebig-Universität, Giessen, Germany.
Mulliken
J B
JB
Müller
U
U
D001483:Base Sequence; D002648:Child; D002874:Chromosome Mapping; D002879:Chromosomes, Human, Pair 10; D003394:Craniofacial Dysostosis / Q000235:genetics*; D005091:Exons; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D005810:Multigene Family; D010375:Pedigree; D017354:Point Mutation; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D051497:Receptor, Fibroblast Growth Factor, Type 2; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D017384:Sequence Deletion
D017468:Receptors, Fibroblast Growth Factor; C496353:FGFR2 protein, human; D020794:Receptor Protein-Tyrosine Kinases; D051497:Receptor, Fibroblast Growth Factor, Type 2