No evidence for additional imprinting defects in Silver-Russell syndrome patients with maternal uniparental disomy 7 or 11p15 epimutation

Journal of Pediatric Endocrinology and Metabolism

Volumn 20, Issue 12, 2007, Pages 1329-1331

  Schönherr, Nadine ^a   Meyer, Esther ^a,b   Binder, Gerhard ^c   Wollmann, Hartmut A ^c   Eggermann, Thomas ^a  

^a RWTH AACHEN UNIVERSITY   (Germany)

^b UNIVERSITY DEPARTMENT OF MEDICINE   (United Kingdom)

^c UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

Author keywords

Loss of methylation; Maternal hypomethylation syndrome; Silver Russell syndrome; Transient neonatal diabetes mellitus

Indexed keywords

ARTICLE; BECKWITH WIEDEMANN SYNDROME; CENTROMERE; CHROMOSOME 11P; CHROMOSOME 14Q; CHROMOSOME 6Q; CHROMOSOME 7; CHROMOSOME ABERRATION; CHROMOSOME DUPLICATION; CLINICAL ARTICLE; CLINICAL ASSESSMENT; CLINICAL FEATURE; DIABETES MELLITUS; EPIGENETICS; GENE LOCUS; GENE LOSS; GENE MUTATION; GENETIC ASSOCIATION; GENETIC RISK; GENOME IMPRINTING; HETEROZYGOTE; HUMAN; MUTATIONAL ANALYSIS; NEWBORN DISEASE; RISK ASSESSMENT; SILVER RUSSELL SYNDROME; UNIPARENTAL DISOMY;

EID: 38049115323     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/JPEM.2007.20.12.1329     Document Type: Article

References (11)

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