Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.
Slavotinek AM, Baranzini SE, Schanze D, Labelle-Dumais C, Short KM, Chao R, Yahyavi M, Bijlsma EK, Chu C, Musone S, Wheatley A, Kwok PY, Marles S, Fryns JP, Maga AM, Hassan MG, Gould DB, Madireddy L, Li C, Cox TC, Smyth I, Chudley AE, Zenker M.
Slavotinek AM, et al. Among authors: short km.
J Med Genet. 2011 Jun;48(6):375-82. doi: 10.1136/jmg.2011.089631. Epub 2011 Apr 20.
J Med Genet. 2011.
PMID: 21507892
Free PMC article.