Mosaic imprinting defect in a patient with an almost typical expression of the Prader-Willi syndrome

European Journal of Human Genetics

Volumn 13, Issue 3, 2005, Pages 273-277

  Wey, Eva ^a   Bartholdi, Deborah ^a   Riegel, Mariluce ^a   Nazlican, Hülya ^b   Horsthemke, Bernhard ^b   Schinzel, Albert ^a   Baumer, Alessandra ^a  

^a UNIVERSITY OF ZURICH   (Switzerland)

^b UNIVERSITY HOSPITAL ESSEN   (Germany)

Author keywords

Clinical PWS features; Imprinting defect; Mosaicism; Prader Willi syndrome

Indexed keywords

DNA; MICROSATELLITE DNA;

ADULT; ARTICLE; BLOOD SAMPLING; CASE REPORT; CHROMOSOME 15; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DNA METHYLATION; FACIES; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC ANALYSIS; GENOME IMPRINTING; HUMAN; MOSAICISM; PHENOTYPE; PRADER WILLI SYNDROME; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; RESTRICTION MAPPING;

ADULT; CHILD; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA METHYLATION; FEMALE; GENOMIC IMPRINTING; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MICROSATELLITE REPEATS; MOSAICISM; POLYMERASE CHAIN REACTION; PRADER-WILLI SYNDROME;

EID: 14944359533     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201337     Document Type: Article

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