Epimutation at human chromosome 14q32.2 in a boy with a upd(14)mat-like clinical phenotype

Clinical Genetics

Volumn 75, Issue 3, 2009, Pages 251-258

  Zechner, Ulrich ^a   Kohlschmidt, N ^a   Rittner, G ^a   Damatova, N ^a   Beyer, V ^a   Haaf, T ^a   Bartsch, O ^a  

^a JOHANNES GUTENBERG UNIVERSITY   (Germany)

Author keywords

Chromosome 14q32.2; Epimutation; IG DMR; Upd(14)mat like phenotype

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 14Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME MUTATION; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DNA METHYLATION; FEEDING BEHAVIOR; FLUORESCENCE IN SITU HYBRIDIZATION; GENE AMPLIFICATION; GENE LOCUS; GENETIC SCREENING; GENOTYPE; HUMAN; LOW BIRTH WEIGHT; MUSCLE HYPOTONIA; OBESITY; PHENOTYPE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; UNIPARENTAL DISOMY;

ABNORMALITIES, MULTIPLE; ADULT; BASE SEQUENCE; CHILD; CHROMOSOMES, HUMAN, PAIR 14; EPIGENESIS, GENETIC; FEMALE; GENOMIC IMPRINTING; HUMANS; MALE; METHYLATION; MOLECULAR SEQUENCE DATA; MOTHERS; MUTATION; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; UNIPARENTAL DISOMY;

EID: 60549099968     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2008.01116.x     Document Type: Article

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