Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis
CDC45基因突变(该基因编码起始前复合物的关键组分)会导致梅尔-戈林综合征和颅缝早闭症。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2016.05.019.
Aimee L Fenwick ,Maciej Kliszczak ,Fay Cooper ,Jennie Murray ,Luis Sanchez-Pulido ,Stephen R F Twigg ,Anne Goriely ,Simon J McGowan ,Kerry A Miller ,Indira B Taylor ,Clare Logan ,Sumita Danda ,Joanne Dixon ,Solaf M Elsayed ,Ezzat Elsobky ,Alice Gardham ,Mariette J V Hoffer ,Marije Koopmans ,Donna M McDonald-McGinn ,Gijs W E Santen ,Ravi Savarirayan ,Deepthi de Silva ,Olivier Vanakker ,Steven A Wall ,Louise C Wilson ,Ozge Ozalp Yuregir ,Elaine H Zackai ,Chris P Ponting ,Andrew P Jackson ,Andrew O M Wilkie ,Wojciech Niedzwiedz ,Louise S Bicknell