Mutations in MAP3K7 that alter the activity of the TAK1 signaling complex cause frontometaphyseal dysplasia.

Frontometaphyseal dysplasia (FMD) is a progressive, sclerosing skeletal dysplasia affecting the long bones and skull. The cause of FMD in some individuals is gain-of-function mutations in FLNA, although how these mutations result in a hyperostotic phenotype remains unknown. Approximately one half of...

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Bibliographic Details
Main Authors:	Wade, E, Daniel, P, Jenkins, Z, McInerney-Leo, A, Morgan, T, Addor, M, Ades, L, Bertola, D, Bohring, A, Carter, E, Cho, T, Duba, H, Fletcher, E, Kim, C, Krakow, D, Morava, E, Neuhann, T, Superti-Furga, A, Veenstra-Knol, I, Wieczorek, D, Wilson, L, Hennekam, R, Sutherland-Smith, A, Strom, T, Wilkie, A, Brown, M, Duncan, E, Markie, D, Robertson, S
Format:	Journal article
Published:	Elsevier 2016

Mutations in MAP3K7 that alter the activity of the TAK1 signaling complex cause frontometaphyseal dysplasia.

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