Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome
DLL4基因杂合功能缺失突变导致亚当斯-奥利弗综合征
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2015.07.015
Meester, Josephina A N; Southgate, Laura; Stittrich, Anna-Barbara; Venselaar, Hanka; Beekmans, Sander J A; den Hollander, Nicolette; Bijlsma, Emilia K; Helderman-van den Enden, Appolonia; Verheij, Joke B G M; Glusman, Gustavo; Roach, Jared C; Lehman, Anna; Patel, Millan S; de Vries, Bert B A; Ruivenkamp, Claudia; Itin, Peter; Prescott, Katrina; Clarke, Sheila; Trembath, Richard; Zenker, Martin; Sukalo, Maja; Van Laer, Lut; Loeys, Bart; Wuyts, Wim