Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM6_ESM.xlsx › Sheet1
KLHL41 orchestrates sarcomere assembly and size to drive skeletal muscle hypertrophy in vivo.
Han H et al.
Biorxiv : the Preprint Server for Biology, 2025
The Emerging TNNT3 Spectrum: From Distal Arthrogryposis to Congenital Myopathy.
Altin N et al.
Human Mutation, 2025
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2024
39138584 (PubMed )
Supplement: 13023_2024_3300_MOESM4_ESM.xlsx › Sheet1
Heterogenic Genetic Background of Distal Arthrogryposis-Review of the Literature and Case Report.
Illés A et al.
Children (basel, Switzerland), 2024
Diagnostic work-up and phenotypic characteristics of a family with variable severity of distal arthrogryposis type 2B (Sheldon-Hall syndrome) and TNNT3 pathogenic variant.
Dabaj I et al.
Frontiers in Genetics, 2022
Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis.
Pollazzon M et al.
Genes, 2021
The distal arthrogryposis-linked p.R63C variant promotes the stability and nuclear accumulation of TNNT3.
Lu J et al.
Journal of Clinical Laboratory Analysis, 2021
Biallelic Pathogenic Variants in TNNT3 Associated With Congenital Myopathy.
Calame DG et al.
Neurology. Genetics, 2021
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant.
Sandaradura SA et al.
Human Mutation, 2018
TNNT1, TNNT2, and TNNT3: Isoform genes, regulation, and structure-function relationships.
Wei B et al.
Gene, 2016
Exome Sequencing Identifies a Dominant TNNT3 Mutation in a Large Family with Distal Arthrogryposis.
Daly SB et al.
Molecular Syndromology, 2014
A novel TNNI2 mutation causes Freeman-Sheldon syndrome in a Chinese family with an affected adult with only facial contractures.
Li X et al.
Gene, 2013
Spectrum of mutations that cause distal arthrogryposis types 1 and 2B.
Beck AE et al.
American Journal of Medical Genetics. Part A, 2013
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
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