- Rare clinical phenotype of filaminopathy presenting as restrictive cardiomyopathy and myopathy in childhood
A. Muravyev et al, 2022, Orphanet J Rare Dis CrossRef - Identification of a novel pathogenic variant in the MYH3 gene in a fiveāgeneration family with CPSFS1A (Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1A)
Jing Zhang et al, 2020, Molec Gen & Gen Med CrossRef - Identification of two novel MYH3 variants causing different phenotypes in prenatal diagnosis
Yang Yang et al, 2023, Prenatal Diagnosis CrossRef