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Atypical noncontiguous TSC2/PKD1 gene deletions presenting as tuberous sclerosis/polycystic kidney disease contiguous gene syndrome.
Ventayol-Guirado M, Torres L, Asensio-Landa V, Pérez-Granero Á, Madrid MI, Hernandez-Rodriguez J, Llull-Alberti MV, Lumbreras J, Escribà S, Pons M, Roldan J, Martínez-López I, Heine-Suñer D, Santos-Simarro F. Ventayol-Guirado M, et al. Among authors: asensio landa v. Am J Med Genet A. 2024 Dec;194(12):e63830. doi: 10.1002/ajmg.a.63830. Epub 2024 Aug 2. Am J Med Genet A. 2024. PMID: 39095963