Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster

Human Mutation

Volumn 29, Issue 9, 2008, Pages 1141-1146

  Buiting, Karin ^a   Kanber, Deniz ^a   Martín Subero, José I ^b   Lieb, Wolfgang ^c   Terhal, Paulien ^d   Albrecht, Beate ^a   Purmann, Sabine ^c   Gross, Stephanie ^a   Lich, Christina ^a   Siebert, Reiner ^b   Horsthemke, Bernhard ^a   Gillessen Kaesbach, Gabriele ^c  

^a UNIVERSITY HOSPITAL ESSEN   (Germany)

^b UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^c UNIVERSITY OF LÜBECK   (Germany)

^d UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

DLK1; Epimutation; GTL2; Imprinting defect; Microdeletion; Uniparental disomy

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHROMOSOME 14; CLINICAL FEATURE; DELTA LIKE 1 HOMOLOG GENE; FEMALE; GENE CLUSTER; GENE DELETION; GENE EXPRESSION; GTL2 GENE; HUMAN; HUMAN GENOME; HYPERMETROPIA; INHERITANCE; MALE; METHYLATION; MORPHOLOGICAL TRAIT; OBESITY; PRECOCIOUS PUBERTY; PRIORITY JOURNAL; SCHOOL CHILD; SHORT STATURE; UNIPARENTAL DISOMY;

ADULT; CHILD; CHROMOSOMES, HUMAN, PAIR 14; DNA METHYLATION; DNA MUTATIONAL ANALYSIS; EPIGENESIS, GENETIC; FEMALE; GENE DELETION; GENOMIC IMPRINTING; HUMANS; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; MEMBRANE PROTEINS; MOTHERS; MULTIGENE FAMILY; MUTATION; PROTEINS; UNIPARENTAL DISOMY;

EID: 51549093979     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20771     Document Type: Article

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