Associated Papers
Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicism.
Seyama R et al.
Journal of Human Genetics, 2023
A novel missense mutation of TNNI2 in a Chinese family cause distal arthrogryposis type 1.
Wang B et al.
American Journal of Medical Genetics. Part A, 2016
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
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