Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects.
Chong JX, Childers MC, Marvin CT, Marcello AJ, Gonorazky H, Hazrati LN, Dowling JJ, Amrani FA, Alanay Y, Nieto Y, Gabriel MÁM, Aylsworth AS, Buckingham KJ, Shively KM, Sommers O, Anderson K; University of Washington Center for Mendelian Genomics, University of Washington Center for Rare Disease Research; Regnier M, Bamshad MJ.
Chong JX, et al. Among authors: regnier m.
medRxiv [Preprint]. 2023 Mar 9:2023.03.07.23286862. doi: 10.1101/2023.03.07.23286862.
medRxiv. 2023.
PMID: 36945405
Free PMC article.
Updated.
Preprint.