학술논문
Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype
Document Type
Article
Author
Santos-Simarro, Fernando; Pacio, Marta; Cueto-González, Anna María; Mansilla, Elena; Valenzuela-Palafoll, María Irene; López-Grondona, Fermina; Lledín, María Dolores; Schuffelmann, Cristina; del Pozo, Ángela; Solis, Mario; Vallcorba, Patricia; Lapunzina, Pablo; Menéndez Suso, Juan José; Siccha, Sofia M.; Montejo, Juan Manuel; Mena, Rocío; Jiménez-Rodríguez, Carmen; García-Miñaúr, Sixto; Palomares-Bralo, María
Source
In European Journal of Medical Genetics November 2021 64(11)
Subject
Language
ISSN
1769-7212