2024
DOI: 10.3389/fendo.2024.1382583
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Endocrine features of Prader-Willi syndrome: a narrative review focusing on genotype-phenotype correlation

Simona F. Madeo,
Luca Zagaroli,
Sara Vandelli
et al.

Abstract: Prader-Willi syndrome (PWS) is a complex genetic disorder caused by three different types of molecular genetic abnormalities. The most common defect is a deletion on the paternal 15q11-q13 chromosome, which is seen in about 60% of individuals. The next most common abnormality is maternal disomy 15, found in around 35% of cases, and a defect in the imprinting center that controls the activity of certain genes on chromosome 15, seen in 1-3% of cases. Individuals with PWS typically experience issues with the hypo… Show more

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