DYRK1A mutations in two unrelated patients

European Journal of Medical Genetics

Volumn 58, Issue 3, 2015, Pages 168-174

  Ruaud, Lyse ^a   Mignot, Cyril ^b   Guët, Agnès ^c   Ohl, Christelle ^d   Nava, Caroline ^b   Héron, Delphine ^b   Keren, Boris ^b   Depienne, Christel ^b   Benoit, Valérie ^e   Maystadt, Isabelle ^e   Lederer, Damien ^e   Amsallem, Daniel ^a   Piard, Juliette ^a  

^a UNIVERSITY HOSPITAL OF BESANÇON   (France)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^c ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^d Centre d'Action Médico Sociale Précoce   (France)

^e INSTITUTE OF PATHOLOGY AND GENETICS   (Belgium)

Author keywords

Autism spectrum disorder; DYRK1A mutation; Dysmorphism; Intellectual disability

Indexed keywords

ARTICLE; AUTISM; BRAIN ATROPHY; CASE REPORT; CHILD; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DUAL SPECIFY TYROSINE PHOSPHORYLATION REGULATED KINASE 1A GENE; FACE DYSMORPHIA; FEBRILE CONVULSION; GENETIC ASSOCIATION; HUMAN; MALE; MICROCEPHALY; MICROPENIS; MISSENSE MUTATION; MUTATOR GENE; NEUROIMAGING; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PHENOTYPIC VARIATION; PRESCHOOL CHILD; STEREOTYPY; AUTISTIC DISORDER; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISABILITIES; DOWN SYNDROME; EPILEPSY; GENE LOCUS; GENETICS; HETEROZYGOTE; HIGH THROUGHPUT SEQUENCING; INTELLECTUAL DISABILITY; METABOLISM;

DYRK KINASE; FMR1 PROTEIN, HUMAN; FRAGILE X MENTAL RETARDATION PROTEIN; HOMEODOMAIN PROTEIN; PROTEIN SERINE THREONINE KINASE; PROTEIN TYROSINE KINASE; REPRESSOR PROTEIN; SMALL NUCLEAR RIBONUCLEOPROTEIN; SNRPN PROTEIN, HUMAN; ZEB2 PROTEIN, HUMAN;

AUTISTIC DISORDER; CHILD; CHILD, PRESCHOOL; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISABILITIES; DOWN SYNDROME; EPILEPSY; FRAGILE X MENTAL RETARDATION PROTEIN; GENETIC LOCI; HETEROZYGOTE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HOMEODOMAIN PROTEINS; HUMANS; INTELLECTUAL DISABILITY; MALE; MICROCEPHALY; MUTATION, MISSENSE; PHENOTYPE; PROTEIN-SERINE-THREONINE KINASES; PROTEIN-TYROSINE KINASES; REPRESSOR PROTEINS; SNRNP CORE PROTEINS;

EID: 84924626075     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2014.12.014     Document Type: Article

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