Microdeletions including YWHAE in the Miller–Dieker syndrome region on chromosome 17p13.3 result in facial dysmorphisms, growth restriction, and cognitive impairment
S C Sreenath Nagamani, F Zhang, O A Shchelochkov, W Bi, Z Ou, F Scaglia, F J Probst, M Shinawi, C Eng, J V Hunter, S Sparagana, E Lagoe, C-T Fong, M Pearson, M Doco-Fenzy, E Landais, M Mozelle, A C Chinault, A Patel, C A Bacino, T Sahoo, S H Kang, S W Cheung, J R Lupski, P Stankiewicz
Journal of Medical Genetics Dec 2009, 46 (12) 825-833; DOI: 10.1136/jmg.2009.067637