title: FGFR2 splice site mutations in Crouzon and Pfeiffer syndromes: two novel variants.
authors: Department of Neurosurgery, Necker-Enfants Malades Hospital - Centre de référence des dysostoses craniofaciales, Paris, France.
authors: C
authors: C
authors: Apra
authors: Department of Biochemistry and Molecular Biology, Inserm 1132, Lariboisière Hospital, Paris, France.
authors: C
authors: C
authors: Collet
authors: Department of Neurosurgery, Necker-Enfants Malades Hospital - Centre de référence des dysostoses craniofaciales, Paris, France.
authors: E
authors: E
authors: Arnaud
authors: Department of Neurosurgery, Necker-Enfants Malades Hospital - Centre de référence des dysostoses craniofaciales, Paris, France.
authors: F
authors: F
authors: Di Rocco
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003394:Craniofacial Dysostosis / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D010641:Phenotype; D022821:RNA Splice Sites / Q000235:genetics*; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics*
chemical_list: D022821:RNA Splice Sites; C496353:FGFR2 protein, human; D051497:Receptor, Fibroblast Growth Factor, Type 2