title: Three craniosynostotic patients with tracheal sleeve.
abstract: The gene was analysed in three craniosynostotic patients with a tracheal sleeve and other abnormalities. Although the majority of mutations are found in either exons IIIa or IIIc, this was not found in this study. It may be that patients with a tracheal sleeve are genetically heterogeneous.
authors.affiliation: Clinical and Molecular Genetics, Institute of Child Health, London, UK. kxo23@po.cwru.edu
authors.forename: Kazuki
authors.initials: K
authors.lastname: Okajima
authors.forename: Ichiro
authors.initials: I
authors.lastname: Aoki
authors.forename: Nobuyuki
authors.initials: N
authors.lastname: Sagehashi
authors.forename: Sue
authors.initials: S
authors.lastname: Malcolm
authors.forename: Robin M
authors.initials: RM
authors.lastname: Winter
mesh_terms: D000168:Acrocephalosyndactylia / Q000235:genetics* / Q000473:pathology; D006801:Humans; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D051497:Receptor, Fibroblast Growth Factor, Type 2; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D014132:Trachea / Q000002:abnormalities*
chemical_list: D017468:Receptors, Fibroblast Growth Factor; C496353:FGFR2 protein, human; D020794:Receptor Protein-Tyrosine Kinases; D051497:Receptor, Fibroblast Growth Factor, Type 2