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.