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Article

The paradox of Prader-Willi syndrome revisited: Making sense of the phenotype.

EBioMedicine - 1 Apr 2022

Holland Anthony, Manning Katie, Whittington Joyce

Abstract excerpt

Prader-Willi syndrome arises as a consequence of absent paternal copies of maternally imprinted genes at 15q11-13. Such gender-of-origin imprinted genes are expressed in the brain and also in mammalian placenta where paternally expressed imprinted genes drive foetal nutritional demand. We hypothesise that the PWS phenotype is the result of the genotype impacting two pathways: first, directly on brain development...

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Identifiers

PMID: 35316681
DOI: 10.1016/j.ebiom.2022.103952
PMCID: PMC8943243

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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