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- Title
Clinical spectrum and outcomes in families with coronal synostosis and TCF12 mutations.
- Authors
di Rocco, Federico; Baujat, Geneviève; Arnaud, Eric; Rénier, Dominique; Laplanche, Jean-Louis; Daire, Valérie Cormier; Collet, Corinne
- Abstract
TCF12 mutations have been reported very recently in coronal synostosis. We report several cases of familial coronal synostosis among four families harbouring novel TCF12 mutations. We observed a broad interfamilial phenotypic spectrum with features overlapping with the Saethre-Chotzen syndrome. TCF12 molecular testing should be considered in patients with unilateral- or bilateral-coronal synostosis associated or not with syndactyly, after having excluded mutations in the TWIST1 gene and the p.Pro250Arg mutation in FGFR3.
- Subjects
HUMAN genetics; HUMAN biology; HUMAN heredity; PHYSICAL anthropology; HOUSEHOLDS; GENETIC mutation
- Publication
European Journal of Human Genetics, 2014, Vol 22, Issue 12, p1413
- ISSN
1018-4813
- Publication type
Article
- DOI
10.1038/ejhg.2014.57