Article
Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.
American journal of human genetics - 1 Jun 1998
Paznekas W A, Cunningham M L, Howard T D, Korf B R, Lipson M H, Grix A W, Feingold M, Goldberg R, Borochowitz Z, Aleck K, Mulliken J, Yin M, Jabs E W
Abstract excerpt
Thirty-two unrelated patients with features of Saethre-Chotzen syndrome, a common autosomal dominant condition of craniosynostosis and limb anomalies, were screened for mutations in TWIST, FGFR2, and FGFR3. Nine novel and three recurrent TWIST mutations were found in 12 families. Seven families were found to have the FGFR3 P250R mutation, and one individual was found to have an FGFR2 VV269-270 deletion. To date,...
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