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Diagnostic work-up and phenotypic characteristics of a family with variable severity of distal arthrogryposis type 2B (Sheldon-Hall syndrome) and TNNT3 pathogenic variant.
Front Genet. 2023 Mar 9;13:955041. doi: 10.3389/fgene.2022.955041. eCollection 2022.
Front Genet. 2023.
PMID: 36968005
Free PMC article.
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