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

Clin Genet. 2005 Aug;68(2):179-81. doi: 10.1111/j.1399-0004.2005.00477.x.

Authors

M Gonzales, S Heuertz, J Martinovic, S Delahaye, A Bazin, P Loget, L Pasquier, M Le Merrer, J Bonaventure

PMID: 15996217
DOI: 10.1111/j.1399-0004.2005.00477.x

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

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

Substances

Receptors, Fibroblast Growth Factor
FGFR2 protein, human
Receptor Protein-Tyrosine Kinases
Receptor, Fibroblast Growth Factor, Type 2