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Article

Prader Willi syndrome: advances in genetics.

Advances in genetics - 1 Jan 2025

Hingar Suhani, Schneeberger Pané Marc, Romero María José Ortuño

Abstract excerpt

Prader-Willi syndrome (PWS) is a complex genetic disorder arising from abnormalities on chromosome 15q11.2-q13, characterized by distinct physical, cognitive, and behavioral features that evolve across the lifespan. Early manifestations include severe hypotonia, feeding difficulties, and failure to thrive in infancy, progressing to hyperphagia, obesity, intellectual disabilities, and behavioral challenges in...

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PMID: 40409799
DOI: 10.1016/bs.adgen.2025.03.001

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