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Page 1
Retinoic acid, RARs and early development.
Berenguer M, Duester G. Berenguer M, et al. J Mol Endocrinol. 2022 Oct 11;69(4):T59-T67. doi: 10.1530/JME-22-0041. Print 2022 Nov 1. J Mol Endocrinol. 2022. PMID: 35593389 Free PMC article.
A novel de novo mutation in MYT1, the unique OAVS gene identified so far.
Berenguer M, Tingaud-Sequeira A, Colovati M, Melaragno MI, Bragagnolo S, Perez ABA, Arveiler B, Lacombe D, Rooryck C. Berenguer M, et al. Eur J Hum Genet. 2017 Sep;25(9):1083-1086. doi: 10.1038/ejhg.2017.101. Epub 2017 Jun 14. Eur J Hum Genet. 2017. PMID: 28612832 Free PMC article.
Mutations in MYT1, encoding the myelin transcription factor 1, are a rare cause of OAVS.
Lopez E, Berenguer M, Tingaud-Sequeira A, Marlin S, Toutain A, Denoyelle F, Picard A, Charron S, Mathieu G, de Belvalet H, Arveiler B, Babin PJ, Lacombe D, Rooryck C. Lopez E, et al. Among authors: berenguer m. J Med Genet. 2016 Nov;53(11):752-760. doi: 10.1136/jmedgenet-2016-103774. Epub 2016 Jun 29. J Med Genet. 2016. PMID: 27358179