Advances in overgrowth syndromes: Clinical classification to molecular delineation in Sotos syndrome and Beckwith-Wiedemann syndrome

Current Opinion in Pediatrics

Volumn 17, Issue 6, 2005, Pages 740-746

  Cytrynbaum, Cheryl S ^a,b   Smith, Adam C ^a,b   Rubin, Tamar ^a   Weksberg, Rosanna ^a,b,c  

^a HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

Beckwith Wiedemann syndrome; Imprinting; NSD1; Phenotype genotype correlations; Sotos syndrome

Indexed keywords

NUCLEAR RECEPTOR SET DOMAIN CONTAINING PROTEIN 1; PROTEIN; RNA H19; SOMATOMEDIN B; UNCLASSIFIED DRUG;

BECKWITH WIEDEMANN SYNDROME; BODY GROWTH; CANCER RISK; CANCER SCREENING; CHILD GROWTH; CHROMOSOME 5Q; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME INVERSION; CHROMOSOME MOSAICISM; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION; CLINICAL FEATURE; DIAGNOSTIC VALUE; DISEASE CLASSIFICATION; DNA METHYLATION; FERTILIZATION IN VITRO; GENE DELETION; GENE EXPRESSION; GENETIC RISK; GENOTYPE PHENOTYPE CORRELATION; GROWTH RETARDATION; HAPLOIDY; HIGH RISK PREGNANCY; HUMAN; INFERTILITY THERAPY; MISSENSE MUTATION; MOLECULAR GENETICS; MONOZYGOTIC TWINS; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; PROMOTER REGION; REVIEW; SOTOS SYNDROME; SYNDROME DELINEATION; VERTICAL TRANSMISSION;

BECKWITH-WIEDEMANN SYNDROME; CHILD; CHROMOSOMES, HUMAN, PAIR 11; GENOMIC IMPRINTING; GENOTYPE; GROWTH DISORDERS; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MUTATION; NUCLEAR PROTEINS; PHENOTYPE; SYNDROME; TRANSLOCATION, GENETIC; UNIPARENTAL DISOMY;

EID: 28044438672     PISSN: 10408703     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.mop.0000187191.74295.97     Document Type: Review

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