Article
CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management.
Clinical genetics - 1 Aug 2025
Contrò Gianluca, Baroni Maria Chiara, Caraffi Stefano Giuseppe, Napoli Manuela, Artuso Rosangela, Giliberti Annarita, Bargiacchi Sara, Mancano Giorgia, Traficante Giovanna, Mucciolo Mafalda, Radio Francesca Clementina, Cordeddu Viviana, Mancini Cecilia, Bottillo Irene, Pirro Federica Anna, Bonati Maria Teresa, Becker Cord-Christian, Carli Diana, Mussa Alessandro, Gonzalez Maria Isis Atallah, Ruiz-Arana Inge Lore, Kumps Camille, Maystadt Isabelle, Moortgat Stephanie, Peker Alp, Piccione Maria, Grammatico Paola, Rostomashvili Nino, Lévy Jonathan, Scala Marcello, Capra Valeria, Torella Annalaura, van Eyk Clare, Isidor Bertrand, Cogne Benjamin, Srivastava Siddharth, Quinlan Aisling, Vaisfeld Alessandro, Licchetta Laura, Frattini Daniele, Graziano Claudio, Severi Giulia, Bacchi Isabelle, Soliani Luca, Sherr Elliott H, Argilli Emanuela, Goel Himanshu, De Luca Chiara, Leonardi Silvia, Brancati Francesco, Faletra Flavio, Mio Catia, Braibanti Silvia, Gargano Giancarlo, Fusco Carlo, Novelli Antonio, Tartaglia Marco, Garavelli Livia
Abstract excerpt
In 2016, Sifrim and colleagues described the first group of patients carrying heterozygous pathogenic variants in CDK13 and sharing major clinical features mainly consisting of congenital heart defects, intellectual disability and peculiar facial features (Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder; CHDFIDD, OMIM # 617360). This condition is generally referred to...
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