Epimutation (hypomethylation) affecting the chromosome 14q32.2 imprinted region in a girl with upd(14)mat-like phenotype

European Journal of Human Genetics

Volumn 16, Issue 8, 2008, Pages 1019-1023

  Hosoki, Kana ^a   Ogata, Tsutomu ^b   Kagami, Masayo ^b   Tanaka, Touju ^c   Saitoh, Shinji ^a  

^a HOKKAIDO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^c NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BIRTH WEIGHT; BLOOD SAMPLING; BODY POSTURE; CASE REPORT; CHROMOSOME 14Q; CHROMOSOME DELETION; DNA HYPOMETHYLATION; DNA METHYLATION; FEMALE; FRONTAL BOSSING; GENE MUTATION; GENOTYPE; GROWTH DISORDER; HAND MALFORMATION; HEAD CIRCUMFERENCE; HUMAN; JAPANESE; KARYOTYPE 46,XX; MICROGNATHIA; MUSCLE HYPOTONIA; PARENT; PHENOTYPE; PRADER WILLI SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; UNIPARENTAL DISOMY;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 14; DNA METHYLATION; DNA, INTERGENIC; FATHERS; FEMALE; GENOMIC IMPRINTING; GROWTH DISORDERS; HUMANS; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; MEMBRANE PROTEINS; MOTHERS; PHENOTYPE; PROTEINS; UNIPARENTAL DISOMY;

EID: 48349145174     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2008.90     Document Type: Article

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