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Genetics of Prader–Willi and Angelman syndromes: 2024 update

18 Dec 2024

Abstract excerpt

PURPOSE OF REVIEW: Prader-Willi (PWS) and Angelman (AS) syndromes arise from errors in 15q11-q13 imprinting. This review describes recent advances in genomics and how these expand our understanding of these rare disorders, guiding treatment strategies to improve patient outcomes. RECENT FINDINGS: PWS features include severe infantile hypotonia, failure to thrive, hypogonadism, developmental delay, behavioral and...

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PMID: 39804213
DOI: 10.1097/yco.0000000000000981

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