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Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.

Am J Hum Genet 97:99-110 (2015)
DOI:10.1016/j.ajhg.2015.05.017

Haensel J, Kohlschmidt N, Pitz S, Keilmann A, Zenker M, Ullmann R, Haaf T, Bartsch O

Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder.

Am J Med Genet A 149A:2236-40 (2009)
DOI:10.1002/ajmg.a.32993