Apert syndrome is a distinctive human malformation comprising craniosynostosis and
severe syndactyly of the hands and feet. We have identified specific missense substitutions …

Crouzon syndrome is an autosomal dominant condition causing premature fusion of the
cranial sutures (craniosynostosis) and maps to chromosome 10q25–q26. We now present …

Pfeiffer syndrome (PS) is one of the classic autosomal dominant craniosynostosis
syndromes with craniofacial anomalies and characteristic broad thumbs and big toes. We …

Mutations in the fibroblast growth factor receptor 2 (FGFR2) gene have been identified in
Crouzon syndrome, an autosomal dominant condition causing premature fusion of the …

Transforming growth factor β1 (TGFβ1) is a multifunctional cytokine involved in pro-and anti-
inflammatory pathways and is expressed in several cell types. Subepithelial fibrosis is one of …

Craniosynostosis, which affects approximately 1 in 2000 children, is the result of the
abnormal development and/or premature fusion of the cranial sutures. Studies of mutations …

We describe a family with non-syndromic sensorineural hearing impairment inherited in a
manner consistent with maternal transmission. Affected members were found to have a …

Mutations in the fibroblast growth factor receptor 2 (FGFR2) gene have previously been
identified in Crouzon syndrome, an autosomal dominant condition involving premature …

Several mutations involving the fibroblast growth factor receptor (FGFR) gene family have
been identified in association with phenotypically distinct forms of craniosynostosis. One …

The causative relationship between several of the syndromic forms of craniosynostosis and
mutations in the fibroblast growth factor receptor (FGFR) loci is now well established …