Clinical study of two brothers with a novel 33 bp duplication in the ARX gene

American Journal of Medical Genetics, Part A

Volumn 149, Issue 7, 2009, Pages 1482-1486

  Demos, Michelle K ^a   Fullston, Tod ^b,c   Partington, Michael W ^d   Gécz, Jozef ^b,c   Gibson, William T ^e  

^a BC CHILDREN S HOSPITAL   (Canada)

^b SA Pathology ^*  (Australia)

^c UNIVERSITY OF ADELAIDE   (Australia)

^d Hunter Genetics   (Australia)

^e UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

Arx gene; Dystonia; Polyalanine expansions; Seizures

Indexed keywords

ARISTALESS RELATED HOMEOBOX PROTEIN; CORTICOTROPIN; HOMEODOMAIN PROTEIN; LAMOTRIGINE; UNCLASSIFIED DRUG; VIGABATRIN;

ANXIETY; ARTICLE; CASE REPORT; CHILD; CYANOSIS; DYSARTHRIA; DYSLEXIA; DYSTONIA; ELECTROENCEPHALOGRAPHY; EPILEPSY; EXCITEMENT; GENE DUPLICATION; GENE LOCATION; GENETIC VARIABILITY; HUMAN; HYPERVENTILATION; HYPOSPADIAS; INFANTILE SPASM; INTELLECTUAL IMPAIRMENT; MALE; MENTAL DEFICIENCY; MUSCLE STIFFNESS; MUSCLE TWITCH; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; SCHOOL CHILD; SEIZURE; SIBLING; SOCIAL INTERACTION; SPEECH DISORDER; TENDON REFLEX;

ADOLESCENT; BASE SEQUENCE; CHILD; GENE DUPLICATION; HOMEODOMAIN PROTEINS; HUMANS; MALE; MENTAL RETARDATION; MOLECULAR SEQUENCE DATA; PEDIGREE; SIBLINGS; SYNDROME; TRANSCRIPTION FACTORS;

EID: 67649870497     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32851     Document Type: Article

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