1. Identification of a novel pathogenic variant in the MYH3 gene in a fiveā€generation family with CPSFS1A (Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1A)
    Jing Zhang et al, 2020, Molecular Genetics & Genomic Medicine CrossRef
  2. Rare clinical phenotype of filaminopathy presenting as restrictive cardiomyopathy and myopathy in childhood
    A. Muravyev et al, 2022, Orphanet Journal of Rare Diseases CrossRef
  3. Identification of two novel MYH3 variants causing different phenotypes in prenatal diagnosis
    Yang Yang et al, 2023, Prenatal Diagnosis CrossRef