Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome

A.B. Mckie, A. Alsaedi, J. de Vogt, K.E. Stuurman, M.M. Weiss, H. Shakeel, L. Tee, N.V. Morgan, P.G.J. Nikkels, G. van Haaften, S.M. Park, J.J. van der Smagt, M. Bugiani, E.R. Maher

Research output: Contribution to journalArticleAcademicpeer-review

19 Citations (Scopus)
Original languageEnglish
Article number148
JournalActa Neuropathologica Communinications
Publication statusPublished - 2014

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