Pleiotropic features of syndromic craniosynostoses correlate with differential expression of fibroblast growth factor receptors 1 and 2 during human craniofacial development.

doi:10.1203/00006450-199901000-00008

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Article

Pleiotropic features of syndromic craniosynostoses correlate with differential expression of fibroblast growth factor receptors 1 and 2 during human craniofacial development.

Pediatric research - 1 Jan 1999

Chan C T, Thorogood P

Abstract excerpt

Mutations in FGFR1, -2, and -3 are linked to five human craniosynostosis syndromes. In addition to premature fusion of cranial sutures, nonskeletal manifestations in skin, and teeth together with CNS abnormalities, reflect widespread effects of these mutations. To understand this pleiotropy, we h...

Topics

Case-Control Studies
Craniosynostoses
Face
Gene Expression Regulation, Developmental
Humans
Phenotype
Receptors, Fibroblast Growth Factor
Reference Values
Skull
Syndrome

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