Vertebral anomalies and cartilaginous tracheal sleeve in three patients with Pfeiffer syndrome carrying the S351C FGFR2 mutation.

Authors :: Gonzales M
Heuertz S
Martinovic J
Delahaye S
Bazin A
Loget P
Pasquier L
Le Merrer M
Bonaventure J
Source :: Clinical genetics [Clin Genet] 2005 Aug; Vol. 68 (2), pp. 179-81.
Publication Year :: 2005

Subjects :: Humans
Mutation
Prenatal Diagnosis
Receptor, Fibroblast Growth Factor, Type 2
Acrocephalosyndactylia complications
Acrocephalosyndactylia genetics
Receptor Protein-Tyrosine Kinases genetics
Receptors, Fibroblast Growth Factor genetics
Spine abnormalities
Trachea abnormalities

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