Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects
Jessica X. Chong, Matthew Carter Childers, Colby T. Marvin, Angela Marcello, Hernan Dario Gonorazky, Lili‐Naz Hazrati, James J. Dowling, Fatema Al Amrani, Yasemin Alanay, Yolanda Nieto, Miguel Ángel Marín Gabriel, Arthur S. Aylsworth, Kati J. Buckingham, Kathryn M. Shively, Olivia Sommers, , Michael J. Bamshad
The paper identifies heterozygous missense variants in ACTC1 as the cause of distal arthrogryposis with congenital heart defects in five families.
Human Genetics and Genomics Advances · Jun 16, 2023Peer-reviewedGenetic & Genomic Medicine