Three craniosynostotic patients with tracheal sleeve.
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.
Okajima
Kazuki
K
Clinical and Molecular Genetics, Institute of Child Health, London, UK. kxo23@po.cwru.edu
Aoki
Ichiro
I
Sagehashi
Nobuyuki
N
Malcolm
Sue
S
Winter
Robin M
RM
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*
D017468:Receptors, Fibroblast Growth Factor; C496353:FGFR2 protein, human; D020794:Receptor Protein-Tyrosine Kinases; D051497:Receptor, Fibroblast Growth Factor, Type 2