Prevalence of prader-willi syndrome among infants with hypotonia

Journal of Pediatrics

Volumn 164, Issue 5, 2014, Pages 1064-1067

  Tuysuz, Beyhan ^a   Kartal, Nuray ^a   Erener Ercan, Tugba ^a   Guclu Geyik, Filiz ^b   Vural, Mehmet ^a   Perk, Yildiz ^a   Erçal, Derya ^c   Erginel Unaltuna, Nihan ^b  

^a ISTANBUL UNIVERSITY   (Turkey)

^b ISTANBUL UNIVERSITY   (Turkey)

^c DOKUZ EYLUL UNIVERSITY   (Turkey)

Author keywords

FISH; Fluorescent in situ hybridization; Prader Willi syndrome; PWS; Uniparental disomy; UPD

Indexed keywords

ARTICLE; CHILD; CHROMOSOME ANALYSIS; CONTROLLED STUDY; DNA METHYLATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENETIC ANALYSIS; HUMAN; INFANT; INFANTILE HYPOTONIA; KARYOTYPING; MAJOR CLINICAL STUDY; MALE; MOLECULAR GENETICS; PRADER WILLI SYNDROME; PREVALENCE; PRIORITY JOURNAL; UNIPARENTAL DISOMY;

CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; DNA METHYLATION; FEMALE; GENETIC TESTING; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INFANT, NEWBORN; MALE; MUSCLE HYPOTONIA; PRADER-WILLI SYNDROME; PREVALENCE; SEQUENCE DELETION;

EID: 84899115247     PISSN: 00223476     EISSN: 10976833     Source Type: Journal    
DOI: 10.1016/j.jpeds.2014.01.039     Document Type: Article

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