๐”– Bobbio Scriptorium
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Prader-Willi syndrome: A primer for clinicians

โœ Scribed by Mary Cataletto; Moris Angulo; Gila Hertz; Barbara Whitman


Book ID
115021767
Publisher
BioMed Central
Year
2011
Tongue
English
Weight
603 KB
Volume
2011
Category
Article
ISSN
1687-9848

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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