학술논문
Vascular, skeletal and endocrine anomalies in mosaic variegated aneuploidy syndrome 2 caused by biallelic variants in CEP57
Document Type
Journal
Author
Palomares-Bralo, Maria; Pacio-Miguez, Marta; Maria Cueto-Gonzalez, Anna; Garcia-Minaur, Sixto; del Pozo, Angela; Menendez Suso, Juan Jose; Climent Alcala, Francisco J.; Mansilla, Elena; Schuffelmann, Cristina; Dolores Lledin, Maria; Solis, Mario; Lopez, Teresa; Valcorba, Patricia; Siccha, Sofia; Valenzuela Palafoll, Maria Irene; Lopez Grondona, Fermina; Nieto Aranda, Francisca; Tizzano, Eduardo; Lapunzina, Pablo; Santos-Simarro, Fernando
Source
Subject
Language
English
ISSN
14765438