Article
Familial autosomal dominant severe ankyloglossia with tooth abnormalities.
American journal of medical genetics. Part A - 1 Jul 2018
Lenormand Anaëlle, Khonsari Roman, Corre Pierre, Perrin Jean Philippe, Boscher Cécile, Nizon Mathilde, Pichon Olivier, David Albert, Le Caignec Cedric, Bertin Helios, Isidor Bertrand
Abstract excerpt
Ankyloglossia is a congenital oral anomaly characterized by the presence of a hypertrophic and short lingual frenulum. Mutations in the gene encoding the transcription factor TBX22 have been involved in isolated ankyloglossia and X-linked cleft palate. The knockout of Lgr5 in mice results in ankyloglossia. Here, we report a five-generation family including patients with severe ankyloglossia and missing lower...
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