Kagami-Ogata syndrome: A clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region

Journal of Human Genetics

Volumn 61, Issue 2, 2016, Pages 87-94

  Ogata, Tsutomu ^a,b   Kagami, Masayo ^b  

^a HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

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

Author keywords

[No Author keywords available]

Indexed keywords

DELTA LIKE 1 HOMOLOG PROTEIN; MATERNALLY EXPRESSED 3 PROTEIN; MICRORNA; PROTEIN; RTL1 PROTEIN; TRANS ACTING FACTOR; UNCLASSIFIED DRUG;

ABDOMINAL WALL DEFECT; ARTIFICIAL VENTILATION; CHROMOSOME 14Q; CHROMOSOME ABERRATION; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DIFFERENTIALLY METHYLATED REGION; DNA METHYLATION; ENHANCER REGION; ENTERIC FEEDING; GENE DOSAGE; GENE EXPRESSION; GENOME IMPRINTING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN CHROMOSOME; HYDRAMNIOS; KAGAMI OGATA SYNDROME; MOLECULAR DIAGNOSIS; MOLECULAR PATHOLOGY; PHENOTYPE; PLACENTA DISORDER; PROTEIN PROTEIN INTERACTION; REPRESSOR GENE; REVIEW; TRACHEOSTOMY; UNIPARENTAL DISOMY; UNIPARENTAL DISOMY 14; ABNORMALITIES, MULTIPLE; CHROMOSOME 14; CHROMOSOME DELETION; CHROMOSOME DISORDERS; GENETICS; SYNDROME;

ABNORMALITIES, MULTIPLE; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 14; GENOMIC IMPRINTING; HUMANS; PHENOTYPE; SYNDROME; UNIPARENTAL DISOMY;

EID: 84959289405     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2015.113     Document Type: Review

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