Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View.
De Maria B, de Jager T, Sarubbi C, Bartsch O, Bianchi A, Brancati F, Chung HB, David A, Kariminejad A, Foresti M, Gallottini M, Isidor B, Marchegiani S, Martins F, Mazzanti L, Roche N, Singh A, Stevens C, Suga K, Zenker M, Hennekam RC.
De Maria B, et al.
Mol Syndromol. 2017 Jun;8(4):172-178. doi: 10.1159/000472408. Epub 2017 Apr 27.
Mol Syndromol. 2017.
PMID: 28690482
Free PMC article.
Barber-Say syndrome (BSS) and ablepharon-macrostomia syndrome (AMS) are infrequently reported congenital malformation disorders caused by mutations in the TWIST2 gene. ...
Barber-Say syndrome (BSS) and ablepharon-macrostomia syndrome (AMS) are infrequently reported congenital malform …