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Volumn 20, Issue 3, 2012, Pages 283-290

Unique and atypical deletions in Prader-Willi syndrome reveal distinct phenotypes

Author keywords

15q11.2 q13; array CGH; genotype phenotype; MS MLPA; Prader Willi syndrome; seizures

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMOSOME 15Q; CHROMOSOME ABERRATION; CHROMOSOME DELETION; CHROMOSOME DELETION 15Q13.3; CLINICAL FEATURE; COHORT ANALYSIS; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; DIAGNOSTIC TEST ACCURACY STUDY; DNA METHYLATION; FEMALE; GENE DELETION; GENE DOSAGE; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; METHYLATION SPECIFIC MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MICROARRAY ANALYSIS; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PHENOTYPE; PRADER WILLI SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

EID: 84857191670     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.187     Document Type: Article
Times cited : (83)

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