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References

These sources were used to develop the Genetics Home Reference condition summary on Manitoba oculotrichoanal syndrome.

Gene Review: Manitoba Oculotrichoanal Syndrome
Li C, Marles SL, Greenberg CR, Chodirker BN, van de Kamp J, Slavotinek A, Chudley AE. Manitoba Oculotrichoanal (MOTA) syndrome: report of eight new cases. Am J Med Genet A. 2007 Apr 15;143A(8):853-7. PubMed citation
Marles SL, Greenberg CR, Persaud TV, Shuckett EP, Chudley AE. New familial syndrome of unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies in Manitoba Indians. Am J Med Genet. 1992 Apr 1;42(6):793-9. PubMed citation
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. Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1. J Med Genet. 2011 Jun;48(6):375-82. doi: 10.1136/jmg.2011.089631. Epub 2011 Apr 20. PubMed citation
Yeung A, Amor D, Savarirayan R. Familial upper eyelid coloboma with ipsilateral anterior hairline abnormality: two new reports of MOTA syndrome. Am J Med Genet A. 2009 Feb 15;149A(4):767-9. doi: 10.1002/ajmg.a.32743. PubMed citation

Reviewed: May 2011

Published: June 17, 2013