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Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. by Le Goff, C, Mahaut, C, Wang, L, Allali, S, Abhyankar, A, Jensen, S, Zylberberg, L, Collod-Beroud, G, Bonnet, D, Alanay, Y, Brady, A, Cordier, M, Devriendt, K, Genevieve, D, Kiper, P, Kitoh, H, Krakow, D, Lynch, SA, Le Merrer, M, Mégarbane, A, Mortier, G, Odent, S, Polak, M, Rohrbach, M, Sillence, D
Published 2011Journal article -
2
Mutations in MAP3K7 that alter the activity of the TAK1 signaling complex cause frontometaphyseal dysplasia. by 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
Published 2016Journal article -
3
Mutations in MAP3K7 that alter the activity of the TAK1 signaling complex cause frontometaphyseal dysplasia by Wade, E, Daniel, P, Jenkins, Z, McInerney-Leo, A, Leo, P, Morgan, T, Addor, M, Adès, 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
Published 2016Journal article