Condition: Multiple Pterygium Syndrome, Autosomal Dominant


rs1555527166 in MYH3 gene and Multiple Pterygium Syndrome, Autosomal Dominant PMID 25957469 2015 Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.

PMID 27381093 2016 Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome.

PMID 29314551 2018 A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions.