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

• Main Authors: Raquel Gouveia-Silva (Author), João Rodrigues-Alves (Author), Juliette Dupont (Author), Oana Moldovan (Author), Patrícia Dias (Author), Márcia Rodrigues (Author), Ana Medeira (Author), Ana B. Sousa (Author)
• Format: Book
• Published: Publicaciones Permanyer, 2024-01-01T00:00:00Z.
• Subjects: article
• Online Access: 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...