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Autor:
Jonathan T. Eggenschwiller, Hankyu Lee, Jinwoong Bok, Hong Kyung Kim, Heejung Moon, Jieun Song, Jeong Oh Shin, Hyuk Wan Ko
Publikováno v:
Proceedings of the National Academy of Sciences. 111:8541-8546
Endocrine-cerebro-osteodysplasia (ECO) syndrome is a recessive genetic disorder associated with multiple congenital defects in endocrine, cerebral, and skeletal systems that is caused by a missense mutation in the mitogen-activated protein kinase-lik