Genomic and epigenomic techniques identify a new variation type causing Mendelian disease by altering the non-coding regulatory network in thyroid cells — solving a hidden cause linked for 20 years.
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Acknowledgements
A.C. is supported by the Medical Research Council (MR/T001712/1), Fondazione Cariplo (grant no. 2019-1836), the Inherited Neuropathy Consortium, Fondazione Regionale per la Ricerca Biomedica (Regione Lombardia, project ID 1751723) and Ministero dell'Università e della Ricerca (PRIN F53D23002330006 - 20229MMHXP).
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Cortese, A., Vegezzi, E. & Houlden, H. Contraction or sequence variant of an intergenic repeat-Alu element leads to inherited thyroid disease. Nat Genet 56, 738–739 (2024). https://doi.org/10.1038/s41588-024-01723-9
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DOI: https://doi.org/10.1038/s41588-024-01723-9