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  1. 1
    AMOTL1-Associated Multiple Congenital Anomalies (Craniofaciocardiohepatic Syndrome, CFCHS): A Novel Clinical Spectrum Including Craniofacial, Heart and Liver Abnormalities

    AMOTL1-Associated Multiple Congenital Anomalies (Craniofaciocardiohepatic Syndrome, CFCHS): A Novel Clinical Spectrum Including Craniofacial, Heart and Liver Abnormalities von Gallego-Zazo, Natalia, Tenorio-Castano, Jair, Parra, Alejandro, Nevado, Julián, Cazalla, Mario, Lucas-Castro, Elsa, Heath, Karen E, Palomares, María, Soengas, Emma, Lledín, M Dolores, Larrea, Emily, Olveira, Antonio, Morte, Beatriz, Carracedo, Ángel, Lapunzina, Pablo

    Veröffentlicht in Clinical genetics

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    Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype

    Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype von 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


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