Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome
BAF复合物亚基DPF2的突变与科芬-西里斯综合征相关
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2018.01.014.
Georgia Vasileiou,Silvia Vergarajauregui,Sabine Endele,Bernt Popp,Christian Büttner,Arif B Ekici,Marion Gerard,Nuria C Bramswig,Beate Albrecht,Jill Clayton-Smith,Jenny Morton,Susan Tomkins,Karen Low,Astrid Weber,Maren Wenzel,Janine Altmüller,Yun Li,Bernd Wollnik,George Hoganson,Maria-Renée Plona,Megan T Cho