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Eye development genes and known syndromes.
Slavotinek AM. Slavotinek AM. Mol Genet Metab. 2011 Dec;104(4):448-56. doi: 10.1016/j.ymgme.2011.09.029. Epub 2011 Sep 29. Mol Genet Metab. 2011. PMID: 22005280 Free PMC article. Review.
DLX4 is associated with orofacial clefting and abnormal jaw development.
Wu D, Mandal S, Choi A, Anderson A, Prochazkova M, Perry H, Gil-Da-Silva-Lopes VL, Lao R, Wan E, Tang PL, Kwok PY, Klein O, Zhuan B, Slavotinek AM. Wu D, et al. Hum Mol Genet. 2015 Aug 1;24(15):4340-52. doi: 10.1093/hmg/ddv167. Epub 2015 May 7. Hum Mol Genet. 2015. PMID: 25954033 Free PMC article.
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. 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.