Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects

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dc.contributor.authorChong, Jessica X.
dc.contributor.authorChilders, Matthew Carter
dc.contributor.authorMarvin, Colby T.
dc.contributor.authorMarcello, Allison J.
dc.contributor.authorGonorazky, Hernan
dc.contributor.authorHazrati, Lili\\-Naz
dc.contributor.authorDowling, James J.
dc.contributor.authorAl Amrani, Fatema
dc.contributor.authorAlanay, Yasemin
dc.contributor.authorNieto, Yolanda
dc.contributor.authorGabriel, Miguel A. Marin
dc.contributor.authorAylsworth, Arthur S.
dc.contributor.authorBuckingham, Kati J.
dc.contributor.authorShively, Kathryn M.
dc.contributor.authorSommers, Olivia
dc.contributor.authorAnderson, Kailyn
dc.contributor.authorRegnier, Michael
dc.contributor.authorBamshad, Michael J.
dc.contributor.authorUniv Washington Ctr Mendelian Genomics
dc.contributor.authorUniv Washington Ctr Rare Dis Res
dc.date.accessioned2025-10-16T15:14:58Z
dc.date.issued2023
dc.identifier.doi10.1016/j.xhgg.2023.100213
dc.identifier.otherWOS:001040848500001
dc.identifier.urihttps://openaccess.acibadem.edu.tr/handle/11443/6332
dc.publisherCELL PRESS
dc.sourceHUMAN GENETICS AND GENOMICS ADVANCES
dc.titleVariants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects
dc.typeArticle

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