Temple syndrome as a result of isolated hypomethylation of the 14q32 imprinted DLK1/MEG3 region

American Journal of Medical Genetics, Part A

Volumn 170, Issue 1, 2016, Pages 170-175

  Briggs, Tracy A ^a   Lokulo Sodipe, Kemi ^b,c   Chandler, Kate E ^a   Mackay, Deborah J G ^b   Temple, I Karen ^b,c  

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

^b UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^c PRINCESS ANNE HOSPITAL   (United Kingdom)

Author keywords

Chromosome 14q32; Epigenetics; Imprinting; Temple syndrome

Indexed keywords

ERYTHROMYCIN; GENOMIC DNA; ZINC ACETATE; DLK1 PROTEIN, HUMAN; LONG UNTRANSLATED RNA; MEG3 NON-CODING RNA, HUMAN; MEMBRANE PROTEIN; SIGNAL PEPTIDE;

ACNE VULGARIS; APGAR SCORE; APRAXIA; ARTICLE; CASE REPORT; CAUCASIAN; CHILD; CHROMOSOME 14Q; CHROMOSOME ANALYSIS; CHROMOSOME DISORDER; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DLK1 GENE; DNA METHYLATION; EPIGENETICS; FACE DYSMORPHIA; FEMALE; FLATFOOT; GENE; GENE LOCUS; GENOME IMPRINTING; GESTATIONAL AGE; HUMAN; INTRAUTERINE GROWTH RETARDATION; JOINT LAXITY; LABOR INDUCTION; LOW BIRTH WEIGHT; MEG3 GENE; MUSCLE HYPOTONIA; OBESITY; PRECOCIOUS PUBERTY; PRIORITY JOURNAL; SCHOOL CHILD; SHORT STATURE; TEMPLE SYNDROME; UNIPARENTAL DISOMY; ADOLESCENT; CHROMOSOME 14; GENETICS; MULTIPLE MALFORMATION SYNDROME; PATHOLOGY; PHENOTYPE;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CHROMOSOMES, HUMAN, PAIR 14; DEVELOPMENTAL DISABILITIES; DNA METHYLATION; FEMALE; GENOMIC IMPRINTING; HUMANS; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; MEMBRANE PROTEINS; PHENOTYPE; RNA, LONG NONCODING; UNIPARENTAL DISOMY;

EID: 84955671287     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37400     Document Type: Article

References (11)

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