Article
Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome.
European journal of human genetics : EJHG - 1 Mar 2006
Lajeunie Elisabeth, Heuertz Solange, El Ghouzzi Vincent, Martinovic Jelena, Renier Dominique, Le Merrer Martine, Bonaventure Jacky
Abstract excerpt
Crouzon Syndrome (CS), Pfeiffer syndrome (PS) and the phenotypically related Jackson-Weiss (JW) variant are three craniosynostotic conditions caused by heterozygous mutations in Fibroblast Growth Factor Receptor (FGFR) genes. Screening a large cohort of 84 patients with clinical features of CS, PS or JW by direct sequencing of genomic DNA, enabled FGFR1, 2 or 3 mutation detection in 79 cases. Mutations...
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