DYRK1A mutations in two unrelated patients - Ruaud, Lyse; Mignot, Cyril; Guët, Agnès; Ohl, Christelle; Nava, Caroline; Héron, Delphine; Keren, Boris; Depienne, Christel; Benoit, Valérie; Maystadt, Isabelle; Lederer, Damien; Amsallem, Daniel; et al. (European journal of medical genetics, 2015)
Keywords: Autism spectrum disorder; Autistic Disorder - diagnosis; Autistic Disorder - genetics; Child; Child, Preschool; Comparative Genomic Hybridization; Developmental Disabilities - diagnosis; Developmental Disabilities - genetics; Down Syndrome - diagnosis; Down Syndrome - genetics; Dyrk Kinases; DYRK1A mutation; Dysmorphism; Epilepsy - diagnosis; Epilepsy - genetics; Fragile X Mental Retardation Protein - genetics; Fragile X Mental Retardation Protein - metabolism; Genetic Loci; Heterozygote; High-Throughput Nucleotide Sequencing; Homeodomain Proteins - genetics; Homeodomain Proteins - metabolism; Humans; Intellectual disability; Intellectual Disability - diagnosis; Intellectual Disability - genetics; Male; Medical Education; Microcephaly - diagnosis; Microcephaly - genetics; Mutation, Missense; Phenotype; Protein Serine-Threonine Kinases - genetics; Protein-Tyrosine Kinases - genetics; Repressor Proteins - genetics; Repressor Proteins - metabolism; snRNP Core Proteins - genetics; snRNP Core Proteins - metabolism; Zinc Finger E-box Binding Homeobox 2; DYRK1A mutation; Dysmorphism; Intellectual disability; Autism spectrum disorder