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Autor:
Marco L. Leung, Whitney Woodhull, Carolina Uggenti, Shauna Schord, Raul Perez Mato, Diana P. Rodriguez, Margie Ream, Yanick J. Crow, Mari Mori
Publikováno v:
Leung, M L, Woodhull, W, Uggenti, C, Schord, S, Mato, R P, Rodriguez, D P, Ream, M, Crow, Y J & Mori, M 2023, ' Molecular characterization of an intronic RNASEH2B variant in a patient with Aicardi-Goutières syndrome ', European journal of medical genetics, vol. 66, no. 4, pp. 104731 . https://doi.org/10.1016/j.ejmg.2023.104731
Aicardi-Goutières syndrome (AGS) is a progressive multisystem disorder including encephalopathy with significant impacts on intellectual and physical abilities. An early diagnosis is becoming ever more crucial, as targeted therapies are emerging. A