Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.

M.B. Tan-Sindhunata, I.B. Matthijssen, M. Smit, F. Baas, J.I.P. de Vries, J.P. van der Voorn, I. Kluijt, M.A. Hagen, E.W. Blom, E.A. Sistermans, J.E. Heijboer-Meijers, Q. Waisfisz, M.M. Weiss, A.J.A. Groffen

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Medicine & Life Sciences