Article
Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome.
American journal of human genetics - 1 Mar 2000
Glaser R L, Jiang W, Boyadjiev S A, Tran A K, Zachary A A, Van Maldergem L, Johnson D, Walsh S, Oldridge M, Wall S A, Wilkie A O, Jabs E W
Abstract excerpt
Crouzon syndrome and Pfeiffer syndrome are both autosomal dominant craniosynostotic disorders that can be caused by mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. To determine the parental origin of these FGFR2 mutations, the amplification refractory mutation system (ARMS) was used. ARMS PCR primers were developed to recognize polymorphisms that could distinguish maternal and paternal alleles....
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