Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome
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Soo-Mi Park | M. Weiss | K. Stuurman | M. Bugiani | P. Nikkels | L. Tee | E. Maher | J. Vogt | N. Morgan | G. van Haaften | J. van der Smagt | Hassan Shakeel | A. Alsaedi | A. McKie | H. Shakeel