Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature

BMC Medical Genetics

Volumn 11, Issue 1, 2010, Pages

  Truong, Hoa T ^a,d,e   Dudding, Tracy ^b,c   Blanchard, Christopher L ^a   Elsea, Sarah H ^d  

^a CHARLES STURT UNIVERSITY   (Australia)

^b Hunter Genetics   (Australia)

^c UNIVERSITY OF NEWCASTLE   (Australia)

^d VIRGINIA COMMONWEALTH UNIVERSITY   (United States)

^e KEYGENE N V   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

RETINOIC ACID INDUCIBLE PROTEIN I; RAI1 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ADOLESCENT; ADULT; ARTICLE; BRACHYDACTYLY; CASE REPORT; CLINICAL FEATURE; CLINODACTYLY; DNA SEQUENCE; EXON; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE INSERTION; GENE SEQUENCE; GENE TARGETING; HEARING LOSS; HUMAN; MALE; MISSENSE MUTATION; MUSCLE HYPOTONIA; NONSENSE MUTATION; OBESITY; PHENOTYPE; PHENOTYPIC VARIATION; PNEUMOTHORAX; SHORT STATURE; SLEEP DISORDER; SMITH MAGENIS SYNDROME; AUTOMUTILATION; CHROMOSOME 17; GENETICS; MULTIPLE MALFORMATION SYNDROME; REVIEW;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CHROMOSOMES, HUMAN, PAIR 17; EXONS; FEMALE; FRAMESHIFT MUTATION; HEARING LOSS; HUMANS; MALE; PHENOTYPE; SELF-INJURIOUS BEHAVIOR; SEQUENCE ANALYSIS, DNA; TRANSCRIPTION FACTORS;

EID: 77957559053     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-11-142     Document Type: Article

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