{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,18]],"date-time":"2026-07-18T10:54:30Z","timestamp":1784372070890,"version":"3.55.0"},"reference-count":30,"publisher":"MDPI AG","issue":"20","license":[{"start":{"date-parts":[[2022,10,11]],"date-time":"2022-10-11T00:00:00Z","timestamp":1665446400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>This article reviews what we know of the phenotype and genotype of Prader-Willi syndrome and hypothesizes two possible paths from phenotype to genotype. It then suggests research that may strengthen the case for one or other of these hypotheses.<\/jats:p>","DOI":"10.3390\/ijms232012089","type":"journal-article","created":{"date-parts":[[2022,10,11]],"date-time":"2022-10-11T22:18:13Z","timestamp":1665526693000},"page":"12089","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Next Steps in Prader-Willi Syndrome Research: On the Relationship between Genotype and Phenotype"],"prefix":"10.3390","volume":"23","author":[{"given":"Joyce","family":"Whittington","sequence":"first","affiliation":[{"name":"Department of Psychiatry, University of Cambridge, Douglas House, 18b Trumpington Road, Cambridge CB2 8AH, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony","family":"Holland","sequence":"additional","affiliation":[{"name":"Department of Psychiatry, University of Cambridge, Douglas House, 18b Trumpington Road, Cambridge CB2 8AH, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,10,11]]},"reference":[{"key":"ref_1","first-page":"103952","article-title":"The paradox of Prader-Willi syndrome revisited: Making sense of the phenotype","volume":"78","author":"Holland","year":"2022","journal-title":"BioMedicine"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"fcac229","DOI":"10.1093\/braincomms\/fcac229","article-title":"In-vivo neuroimaging evidence of hypothalamic alteration in Prader-Willi syndrome","volume":"4","author":"Brown","year":"2022","journal-title":"Brain Commun."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1040","DOI":"10.1002\/ajmg.a.33951","article-title":"Nutritional phases in Prader-Willi syndrome","volume":"155A","author":"Miller","year":"2011","journal-title":"Am. 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