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clEDS is caused by homozygous or compound heterozygous pathogenic variants in the TNXB gene, which leads to nonsense-mediated mRNA decay of TNXB and result in complete absence of TN-X or in misfolding of the protein8

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Supplementary material The Supplementary Material for this article can be found online at: References 1 Alvarez-FernandezA.PawarN.Sanchez-PugaP.ZaccaiN