Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.
Slavotinek, Anne M.; Baranzini, Sergio E.; Schanze, Denny; Labelle-Dumais, Cassandre; Short, Kieran M.; Chao, Ryan; Yahyavi, Mani; Bijlsma, Emilia K.; Chu, Catherine; Musone, Stacey; Wheatley, Ashleigh; Pui-Yan Kwok; Marles, Sandra; Fryns, Jean-Pierre; Maga, A. Murat; Hassan, Mohamed G.; Gould, Douglas B.; Madireddy, Lohith; Chumei Li; Cox, Timothy C.; Journal of Medical Genetics, 2011, vol. 48, issue 6, p 375, ISSN 00222593. ISBN 14686244.

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