Article
Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome.
Human molecular genetics - 1 Mar 1995
Schell U, Hehr A, Feldman G J, Robin N H, Zackai E H, de Die-Smulders C, Viskochil D H, Stewart J M, Wolff G, Ohashi H
Abstract excerpt
Pfeiffer syndrome (PS) is an autosomal dominant skeletal disorder which affects the bones of the skull, hands and feet. Previously, we have mapped PS in a subset of families to chromosome 8cen by linkage analysis and demonstrated a common mutation in the fibroblast growth factor receptor-1 (FGFR1) gene in the linked families. Here we report a second locus for PS on chromosome 10q25, and present evidence that...
Topics
- Abnormalities, Multiple
- Adolescent
- Adult
- Base Sequence
- Child
- Child, Preschool
- Chromosome Mapping
- Chromosomes, Human, Pair 10
- Craniosynostoses
- Exons
- Female