Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy

Journal of Medical Genetics

Volumn 52, Issue 9, 2015, Pages 607-611

  Rajab, Anna ^a   Schuelke, Markus ^b   Gill, Esther ^b   Zwirner, Angelika ^b   Seifert, Franziska ^b   Gonzalez, Susanne Morales ^b   Knierim, Ellen ^b  

^a ROYAL HOSPITAL   (Oman)

^b CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; DEAF1 PROTEIN, HUMAN; NUCLEAR PROTEIN; RNA SPLICING;

ADOLESCENT; ADULT; ARTICLE; AUTISM; AUTOSOMAL RECESSIVE INHERITANCE; BASAL GANGLION; BRAIN DYSFUNCTION; CHILD; CLINICAL ARTICLE; CONSANGUINITY; CONTROLLED STUDY; COPY NUMBER VARIATION; DEAF1 GENE; DYSKINESIA; EPILEPSY; EXOME; EXON SKIPPING; EXTRAPYRAMIDAL SYMPTOM; GENE; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HETEROZYGOSITY; HUMAN; INTELLECTUAL IMPAIRMENT; NUCLEAR MAGNETIC RESONANCE IMAGING; OMANI; PHENOTYPIC VARIATION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; SIBLING; CASE REPORT; CHROMOSOMAL MAPPING; DNA SEQUENCE; EXTRAPYRAMIDAL SYNDROME; GENETICS; MALE; MUTATION; OMAN; PEDIGREE; RECESSIVE GENE; RNA SPLICING;

ADOLESCENT; AUTISTIC DISORDER; BASAL GANGLIA DISEASES; CHROMOSOME MAPPING; CONSANGUINITY; DYSKINESIAS; EPILEPSY; GENES, RECESSIVE; HUMANS; INTELLECTUAL DISABILITY; MALE; MUTATION; NUCLEAR PROTEINS; OMAN; PEDIGREE; RNA SPLICE SITES; SEQUENCE ANALYSIS, DNA;

EID: 84945347098     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2015-103083     Document Type: Article

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