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 Failure to Communicate: MYOSIN RESIDUES INVOLVED IN HYPERTROPHIC CARDIOMYOPATHY AFFECT INTER-DOMAIN INTERACTION.
Kronert WA et al.
The Journal of Biological Chemistry, 2015
Genotype-phenotype relationships in Freeman-Sheldon syndrome.
Beck AE et al.
American Journal of Medical Genetics. Part A, 2014
Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1.
Alvarado DM et al.
The Journal of Bone and Joint Surgery. American Volume, 2011
Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome.
Toydemir RM et al.
Nature Genetics, 2006
A novel mutation in TNNT3 associated with Sheldon-Hall syndrome in a Chinese family with vertical talus.
Zhao N et al.
European Journal of Medical Genetics, 0
Select a paper to view details