Vertebral anomalies and cartilaginous tracheal sleeve in three patients with Pfeiffer syndrome carrying the S351C FGFR2 mutation.
Gonzales
M
M
Heuertz
S
S
Martinovic
J
J
Delahaye
S
S
Bazin
A
A
Loget
P
P
Pasquier
L
L
Le Merrer
M
M
Bonaventure
J
J
D000168:Acrocephalosyndactylia / Q000150:complications* / Q000235:genetics*; D006801:Humans; D009154:Mutation; D011296:Prenatal Diagnosis; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D051497:Receptor, Fibroblast Growth Factor, Type 2; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D013131:Spine / Q000002:abnormalities*; 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