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References

1. Baraitser M, Winter RM. Iris coloboma, ptosis, hypertelorism, and mentalretardation: a new syndrome. J Med Genet. 1988 Jan;25(1):41-3.
2. Pallotta R. Iris coloboma, ptosis, hypertelorism, and mental retardation: anew syndrome possibly localised on chromosome 2. J Med Genet. 1991May;28(5):342-4. Review.
3. Ramer JC, Lin AE, Dobyns WB, Winter R, Aymé S, Pallotta R, Ladda RL.Previously apparently undescribed syndrome: shallow orbits, ptosis, coloboma,trigonocephaly, gyral malformations, and mental and growth retardation. Am J Med Genet. 1995 Jul 3;57(3):403-9. Review.
4. Rivière JB, van Bon BW, Hoischen A, Kholmanskikh SS, O'Roak BJ, Gilissen C,Gijsen S, Sullivan CT, Christian SL, Abdul-Rahman OA, Atkin JF, Chassaing N,Drouin-Garraud V, Fry AE, Fryns JP, Gripp KW, Kempers M, Kleefstra T, Mancini GM,Nowaczyk MJ, van Ravenswaaij-Arts CM, Roscioli T, Marble M, Rosenfeld JA, Siu VM,de Vries BB, Shendure J, Verloes A, Veltman JA, Brunner HG, Ross ME, Pilz DT,Dobyns WB. De novo mutations in the actin genes ACTB and ACTG1 causeBaraitser-Winter syndrome. Nat Genet. 2012 Feb 26;44(4):440-4, S1-2. doi:10.1038/ng.1091.
5. Rossi M, Guerrini R, Dobyns WB, Andria G, Winter RM. Characterization of brainmalformations in the Baraitser-Winter syndrome and review of the literature.Neuropediatrics. 2003 Dec;34(6):287-92. Review.
6. Verloes A. Iris coloboma, ptosis, hypertelorism, and mental retardation:Baraitser-Winter syndrome or Noonan syndrome? J Med Genet. 1993 May;30(5):425-6.