Maternal hypomethylation of KvDMR in a monozygotic male twin pair discordant for beckwith-wiedemann syndrome

Molecular Syndromology

Volumn 5, Issue 1, 2014, Pages 41-46

  Elalaoui, S C ^a,b   Garin, I ^c   Sefiani, A ^a,b   Perez De Nanclares, G ^c  

^a INSTITUT NATIONAL D HYGIÈNE   (Morocco)

^b MOHAMMED V UNIVERSITY   (Morocco)

^c HOSPITAL TXAGORRITXU   (Spain)

Author keywords

Beckwith Wiedemann syndrome; Discordant twins; Methylation defect; Monozygotic twins

Indexed keywords

GENOMIC DNA; SINGLE STRANDED DNA;

ALLELE; ALPHA FETOPROTEIN BLOOD LEVEL; ARTICLE; BECKWITH WIEDEMANN SYNDROME; BIRTH WEIGHT; BODY HEIGHT; CASE REPORT; CONTROLLED STUDY; COPY NUMBER VARIATION; CPG ISLAND; DNA DETERMINATION; DNA METHYLATION; EAR DISEASE; FETUS CIRCULATION; FIBROBLAST; FOLLOW UP; GENE; GENETIC ANALYZER; H19DMR GENE; HEMATOPOIETIC STEM CELL; HUMAN; HUMAN TISSUE; HYPOGLYCEMIA; INGUINAL HERNIA; KVDMR GENE; LYMPHOCYTE; MACROGLOSSIA; MACROSOMIA; MALE; MICROSATELLITE MARKER; MONOZYGOTIC TWINS; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; OMPHALOCELE; PRIORITY JOURNAL; PYROSEQUENCING; SALIVA; TWIN DISCORDANCE; TWIN PREGNANCY; BLOOD ANALYSIS; BLOOD CELL; CHILD; CHROMOSOME 11P; CHROMOSOME MUTATION; CHROMOSOME STRUCTURE; CLINICAL FEATURE; DNA EXTRACTION; EMBRYO DEVELOPMENT; GENETIC ANALYSIS; GENOME IMPRINTING; MEDICAL HISTORY; NEWBORN; ORAL BIOPSY; PHENOTYPIC VARIATION;

EID: 84892166427     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000356689     Document Type: Article

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