Associated Papers
Prenatal Diagnosis of Extracardiac Malformations Caused by an ACTC1 Variant Presented With Cystic Hygroma and Multiple Congenital Contractures.
Feng QQ et al.
Prenatal Diagnosis, 2026
ACTC1 Variants Result in Isolated and Syndromic Cardiac Phenotypes.
Zarate YA et al.
Clinical Genetics, 2025
Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contractures.
Turgut GT et al.
Clinical Genetics, 2024
Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects.
Chong JX et al.
Hgg Advances, 2023
Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects.
Chong JX et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › gnomAD
Nesprin-1 and actin contribute to nuclear and cytoskeletal defects in lamin A/C-deficient cardiomyopathy.
Nikolova-Krstevski V et al.
Journal of Molecular and Cellular Cardiology, 2011
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