Clinical improvement of the aggressive neurobehavioral phenotype in a patient with a deletion of PITX3 and the absence of L-DOPA in the cerebrospinal fluid

American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics

Volumn 159 B, Issue 2, 2012, Pages 236-242

  Derwińska, Katarzyna ^a   Mierzewska, Hanna ^a   Goszczańska, Alicja ^a   Szczepanik, Elzbieta ^a   Xia, Zhilian ^b   Kuśmierska, Katarzyna ^c   Tryfon, Jolanta ^a   Kutkowska Kaźmierczak, Anna ^a   Bocian, Ewa ^a   Mazurczak, Tadeusz ^a   Obersztyn, Ewa ^a   Stankiewicz, Paweł ^a,b  

^a INSTITUTE OF MOTHER AND CHILD   (Poland)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

Author keywords

Array CGH; Copy number variation; Dopamine metabolism; Smith Magenis syndrome

Indexed keywords

ANTICONVULSIVE AGENT; CATECHOLAMINE; LEVODOPA; NEUROTRANSMITTER; TRANSCRIPTION FACTOR PITX3;

ADOLESCENT; AGGRESSION; ANTICONVULSANT THERAPY; ARTICLE; ATTENTION; BEHAVIOR DISORDER; CASE REPORT; CEREBROSPINAL FLUID; COGNITION; COMPARATIVE GENOMIC HYBRIDIZATION; CONCENTRATION (PARAMETERS); DISEASE COURSE; DISEASE SEVERITY; DNA MICROARRAY; DRUG DOSE INCREASE; GENE DELETION; HUMAN; HYPERACTIVITY; INTELLECTUAL IMPAIRMENT; MALE; ONYCHOTILLOMANIA; PHENOTYPE; POLYEMBOLOKOILOMANIA; PRIORITY JOURNAL; SEIZURE; SLEEP DISORDER; SMITH MAGENIS SYNDROME; TRICHOTILLOMANIA;

ADOLESCENT; ADULT; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETIC ANALYSIS; DNA; DOPAMINE AGENTS; DOPAMINERGIC NEURONS; FEMALE; HOMEODOMAIN PROTEINS; HUMANS; LEVODOPA; MALE; PHENOTYPE; POLYMERASE CHAIN REACTION; SELF-INJURIOUS BEHAVIOR; SEQUENCE DELETION; SMITH-MAGENIS SYNDROME; TRANSCRIPTION FACTORS; YOUNG ADULT;

MUS;

EID: 84855831958     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/ajmg.b.32020     Document Type: Article

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