Intragenic deletion of RBFOX1 associated with neurodevelopmental/ neuropsychiatric disorders and possibly other clinical presentations

Molecular Cytogenetics

Volumn 6, Issue 1, 2013, Pages

  Zhao, Wei Wei ^a  

^a KingMed Genome Diagnostic Laboratory   (China)

Author keywords

Chromosomal microarray analysis (CMA); Chromosome 16p13.3; Developmental delay; Microdeletion; RBFOX1; Seizures

Indexed keywords

RNA BINDING PROTEIN; RNA BINDING PROTEIN FOX 1 HOMOLOG; UNCLASSIFIED DRUG;

AGGRESSION; ALEXIA; ARTICLE; AUTISM; BRAIN ISCHEMIA; BRAIN VENTRICLE DILATATION; CEREBRAL PALSY; CHROMOSOME ANALYSIS; CLINICAL FEATURE; COPY NUMBER VARIATION; DEVELOPMENTAL DISORDER; DYSLEXIA; ENCEPHALOMALACIA; EPILEPSY; EXON; FEMALE; FOCAL EPILEPSY; GENE DELETION; GENE DUPLICATION; GENETIC ASSOCIATION; GENOME; GENOTYPE PHENOTYPE CORRELATION; HEMIPARESIS; HUMAN; HYPOXIC ISCHEMIC ENCEPHALOPATHY; INTELLECTUAL IMPAIRMENT; MACROCEPHALY; MAJOR CLINICAL STUDY; MALE; MENTAL DISEASE; MICROARRAY ANALYSIS; MICROCEPHALY; MICROGNATHIA; NEUROLOGIC DISEASE; PATIENT REFERRAL; PLAGIOCEPHALY; PRIORITY JOURNAL; SPASTICITY; SPEECH DELAY; TORTICOLLIS;

EID: 84879815660     PISSN: None     EISSN: 17558166     Source Type: Journal    
DOI: 10.1186/1755-8166-6-26     Document Type: Article

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