Associated Papers
Bi-allelic variants in MYH3 cause recessively-inherited arthrogryposis.
Morali B et al.
Clinical Genetics, 2024
Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders.
Zhao S et al.
Npj Genomic Medicine, 2022
Identification of a novel pathogenic mutation of the MYH3 gene in a family with distal arthrogryposis type 2B.
Wang WB et al.
Molecular Medicine Reports, 2020
A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination.
Takagi M et al.
Journal of Human Genetics, 2018
A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis.
Zieba J et al.
Scientific Reports, 2017
Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.
Chong JX et al.
American Journal of Human Genetics, 2015
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