Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia
MAP3K7基因突变改变TAK1信号复合物的活性，导致额干骺端发育不良
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2016.05.024
Emma M Wade,Philip B Daniel,Zandra A Jenkins,Aideen McInerney-Leo,Paul Leo,Tim Morgan,Marie Claude Addor,Lesley C Adès,Debora Bertola,Axel Bohring,Erin Carter,Tae-Joon Cho,Hans-Christoph Duba,Elaine Fletcher,Chong A Kim,Deborah Krakow,Eva Morava,Teresa Neuhann,Andrea Superti-Furga,Irma Veenstra-Knol,Dagmar Wieczorek,Louise C Wilson,Raoul C M Hennekam,Andrew J Sutherland-Smith,Tim M Strom,Andrew O M Wilkie,Matthew A Brown,Emma L Duncan,David M Markie,Stephen P Robertson
