New developments in Smith-Magenis syndrome (del 17p11.2)

Current Opinion in Neurology

Volumn 20, Issue 2, 2007, Pages 125-134

  Gropman, Andrea L ^a,b,f   Elsea, Sarah ^c   Duncan Jr , Wallace C ^d   Smith, Ann C M ^b,e  

^a GEORGE WASHINGTON UNIVERSITY   (United States)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^c VIRGINIA COMMONWEALTH UNIVERSITY   (United States)

^d NATIONAL INSTITUTE OF MENTAL HEALTH   (United States)

^e GEORGETOWN UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

Author keywords

Chromosome 17p11.2; Circadian rhythm; Interstitial deletion; RAI1; Smith Magenis syndrome

Indexed keywords

GENE PRODUCT; MELATONIN; PROTEIN RAI1; UNCLASSIFIED DRUG;

BEHAVIOR DISORDER; CENTRAL NERVOUS SYSTEM; CHROMOSOME 17P; CHROMOSOME DELETION; CIRCADIAN RHYTHM; CLINICAL FEATURE; COGNITIVE DEFECT; CRANIOFACIAL MALFORMATION; CROSS-SECTIONAL STUDY; CYTOGENETICS; DISEASE ACTIVITY; DISEASE SEVERITY; DOWNSTREAM PROCESSING; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE FUNCTION; GENE MUTATION; HORMONE RELEASE; HUMAN; INFANTILE HYPOTONIA; KIDNEY DISEASE; MEDICAL RESEARCH; MENTAL DEFICIENCY; METHODOLOGY; MOLECULAR DYNAMICS; NEUROIMAGING; PERIPHERAL NERVOUS SYSTEM; PHENOTYPE; POINT MUTATION; REVIEW; SLEEP; SLEEP DISORDER; SMITH MAGENIS SYNDROME;

ABNORMALITIES, MULTIPLE; CHROMOSOMES, HUMAN, PAIR 17; HUMANS; MENTAL RETARDATION; MUTATION; TRANSCRIPTION FACTORS;

EID: 33947165163     PISSN: 13507540     EISSN: None     Source Type: Journal    
DOI: 10.1097/WCO.0b013e3280895dba     Document Type: Review

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