1. Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations
- Author
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Ockeloen, C. (Charlotte), Willemsen, M.H. (Marjolein), Munnik, S.A. (Sonja) de, Bon, B. (Bregje) van, Leeuw, N. (Nicole) de, Verrips, A. (Aad), Kant, S.G. (Sarina), Jones, E.A. (Elizabeth A.), Brunner, H.G., Van Loon, R.L.E. (Rosa), Smeets, E.E.J. (Eric E.J.), Haelst, M.M. (Mieke) van, Haaften, G. (Gijs) van, Nordgren, A. (Ann), Malmgren, H. (Helena), Grigelioniene, G. (Giedre), Vermeer, S.E. (Sarah), Louro, P. (Pedro), Ramos, L. (Lina), Maal, T.J.J. (Thomas J.J.), Heumen, C.C.M. (Céleste) van, Yntema, H.G., Carels, C.E.L. (Carine), Kleefstra, T. (Tjitske), Ockeloen, C. (Charlotte), Willemsen, M.H. (Marjolein), Munnik, S.A. (Sonja) de, Bon, B. (Bregje) van, Leeuw, N. (Nicole) de, Verrips, A. (Aad), Kant, S.G. (Sarina), Jones, E.A. (Elizabeth A.), Brunner, H.G., Van Loon, R.L.E. (Rosa), Smeets, E.E.J. (Eric E.J.), Haelst, M.M. (Mieke) van, Haaften, G. (Gijs) van, Nordgren, A. (Ann), Malmgren, H. (Helena), Grigelioniene, G. (Giedre), Vermeer, S.E. (Sarah), Louro, P. (Pedro), Ramos, L. (Lina), Maal, T.J.J. (Thomas J.J.), Heumen, C.C.M. (Céleste) van, Yntema, H.G., Carels, C.E.L. (Carine), and Kleefstra, T. (Tjitske)
- Abstract
Loss-of-function variants in ANKRD11 were identified as the cause of KBG syndrome, an autosomal dominant syndrome with specific dental, neurobehavioural, craniofacial and skeletal
- Published
- 2015
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