A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features.
Papa FT, Mencarelli MA, Caselli R, Katzaki E, Sampieri K, Meloni I, Ariani F, Longo I, Maggio A, Balestri P, Grosso S, Farnetani MA, Berardi R, Mari F, Renieri A.
Papa FT, et al. Among authors: balestri p.
Am J Med Genet A. 2008 Aug 1;146A(15):1994-8. doi: 10.1002/ajmg.a.32413.
Am J Med Genet A. 2008.
PMID: 18627055