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Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders

15 Feb 2022

Abstract excerpt

Pathogenic variants in MYH3 cause distal arthrogryposis type 2A and type 2B3 as well as contractures, pterygia and spondylocarpotarsal fusion syndromes types 1A and 1B. These disorders are ultra-rare and their natural course and phenotypic variability are not well described. In this study, we summarize the clinical features and genetic findings of 17 patients from 10 unrelated families with vertebral...

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PMID: 35169139
DOI: 10.1038/s41525-021-00273-x

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Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disordersPMID 35169139Read ↗

Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome.Semantic proximity Read ↗

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Autosomal dominant multiple pterygium syndrome is caused by mutations in MYH3Semantic proximity Read ↗

A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions.Semantic proximity Read ↗

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Bi-allelic variants in MYH3 cause recessively-inherited arthrogryposis.Semantic proximity Read ↗

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