Mutations in <i>MYT1</i>, encoding the myelin transcription factor 1, are a rare cause of OAVS.

Lopez, Estelle; Berenguer, Marie; Tingaud-Sequeira, Angèle; Marlin, Sandrine; Toutain, Annick; Denoyelle, Françoise; Picard, Arnaud; Charron, Sabine; Mathieu, Guilaine; de Belvalet, Harmony; Arveiler, Benoit; Babin, Patrick J; Lacombe, Didier; Rooryck, Caroline.
J Med Genet; 53(11): 752-760, 2016 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-27358179