Emanuela Salzano Marcello Niceta Simone Pizzi Francesca Clementina Radio Martina Busè Francesca Mercadante Sabina Barresi Arturo Ferrara Cecilia Mancini Marco Tartaglia Maria Piccione
10.3389/fneur.2023.1090082
Front Neurol
2023 Feb 7;14:1090082.
med23 case report epilepsy post-natal microcephaly whole exome sequencing
CC BY
https://pubmed.ncbi.nlm.nih.gov/36824420/
Case Reports
PMC9941528
36824420
Case report: Novel compound heterozygosity for pathogenic variants in MED23 in a syndromic patient with postnatal microcephaly
2023