Associated Papers
Recessive genetic contribution to congenital heart disease in 5,424 probands.
Dong W et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
40030011 (PubMed )
Supplement: pnas.2419992122.sd02.xlsx › Dataset_S2_-_RGs
A Study of Polish Family with Scoliosis and Limb Contractures Expands the MYH3 Disease Spectrum.
Frasuńska J et al.
Genes, 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
Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases.
Vivante A et al.
Pediatric Nephrology (berlin, Germany), 2017
Molecular prenatal diagnosis for hereditary distal arthrogryposis type 2B.
Jiang M et al.
Prenatal Diagnosis, 2007
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