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The neonatal phenotype of Prader–Willi syndrome

✍ Scribed by Eve Õiglane-Shlik; Riina Žordania; Heili Varendi; Anne Antson; Marja-Liis Mägi; Gunnar Tasa; Oliver Bartsch; Tiina Talvik; Katrin Õunap


Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
137 KB
Volume
140A
Category
Article
ISSN
1552-4825

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Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are distinct developmental disorders caused by absence of paternal or maternal contributions of the chromosome region 15q11-q13, resulting from deletions, uniparental disomy (UPD), or rare imprinting mutations. Molecular cytogenetic diagnosis is