A Case of CDKL5 Deficiency Due to an X Chromosome Pericentric Inversion: Delineation of Structural Rearrangements as an Overlooked Recurrent Pathological Mechanism.
Lombardo A, Sinibaldi L, Genovese S, Catino G, Mei V, Pompili D, Sallicandro E, Falasca R, Liambo MT, Faggiano MV, Roberti MC, Di Donato M, Vitelli A, Russo S, Giannini R, Micalizzi A, Pietrafusa N, Digilio MC, Novelli A, Fusco L, Alesi V.
Lombardo A, et al. Among authors: fusco l.
Int J Mol Sci. 2024 Jun 24;25(13):6912. doi: 10.3390/ijms25136912.
Int J Mol Sci. 2024.
PMID: 39000022
Free PMC article.