Expansion of the clinical and molecular spectrum of an XPD-related disorder linked to biallelic mutations in ERCC2 gene.
Agolini E, Botta E, Lodi M, Digilio MC, Rinelli M, Bellacchio E, Alesi V, Nardo T, Zambruno G, Orioli D, Alessi I, Boccuto L, Rossi S, Carai A, Colafati GS, Cacchione A, Dallapiccola B, Novelli A, Mastronuzzi A.
Agolini E, et al. Among authors: digilio mc.
Clin Genet. 2021 Jun;99(6):842-848. doi: 10.1111/cge.13957. Epub 2021 Apr 5.
Clin Genet. 2021.
PMID: 33733458