DYRK1A-related intellectual disability syndrome: a cohort of Portuguese patients

• Hoofdauteurs: Raquel Gouveia-Silva (Auteur), João Rodrigues-Alves (Auteur), Juliette Dupont (Auteur), Oana Moldovan (Auteur), Patrícia Dias (Auteur), Márcia Rodrigues (Auteur), Ana Medeira (Auteur), Ana B. Sousa (Auteur)
• Formaat: Boek
• Gepubliceerd in: Publicaciones Permanyer, 2024-01-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: Connect to this object online.

Introduction: DYRK1A heterozygous pathogenic variants have been shown to cause a syndromic form of intellectual disability (ID) with impaired speech development, features of autism spectrum disorder (ASD), microcephaly, and a recognizable facial gestalt that evolves with age. Patients can also prese...