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Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome
Arthur B. McKie, Atif Alsaedi, Julie Vogt, Kyra E. Stuurman, Marjan M. Weiss, Hassan Shakeel, Louise Tee, Neil V. Morgan, Peter G.J. Nikkels, Gijs van Haaften, Soo Mi Park, Jasper J. van der Smagt, Marianna Bugiani, Eamonn R. Maher*
*Corresponding author for this work
Research output: Contribution to journal › Article › peer-review