?url_ver=Z39.88-2004&rft_id=doi%3A10.1002%2Fmgg3.1290&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.au=Marcos+Rodr%C3%ADguez%2C+Ana+Teresa&rft.aufirst=Ana+Teresa&rft.aulast=Marcos+Rodr%C3%ADguez&rft.pages=e1290&rft.issue=8&rft.date=Mayo+2020&rft.atitle=A+novel+dominant+mutation+inCRYABgene+leading+to+a+severe+phenotype+with+childhood+onset&rft.title=Molecular+Genetics+%26+Genomic+Medicine&rft.issn=2324-9269&rft.volume=8&rft.genre=article