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

Research output: Contribution to journalArticlepeer-review

14 Citations (Scopus)

Fingerprint

Dive into the research topics of 'Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome'. Together they form a unique fingerprint.

Keyphrases

Biochemistry, Genetics and Molecular Biology