?url_ver=Z39.88-2004&rft_id=10.1002%2Fhumu.22994&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.au=McInerney-Leo%2C+Aideen&rft.aulast=McInerney-Leo&rft.aufirst=Aideen&rft.issn=1059-7794&rft.title=Human+Mutation&rft.date=2016&rft.issue=7&rft.volume=37&rft.atitle=Fryns+syndrome+associated+with+recessive+mutations+in+PIGN+in+two+separate+families&rft.genre=article