{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T05:39:37Z","timestamp":1771911577790,"version":"3.50.1"},"reference-count":18,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2017,4,30]],"date-time":"2017-04-30T00:00:00Z","timestamp":1493510400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,7]]},"abstract":"<jats:sec><jats:label\/><jats:p>Primrose syndrome is characterized by unusual facial features, macrocephaly, intellectual disability, enlarged, and calcified external ears, sparse body hair, and distal muscle wasting. Nine patients have been described in the literature. The disorder is due to missense mutations in <jats:italic>ZBTB20<\/jats:italic>. Here we describe one newly diagnosed 18\u2010month\u2010old patient and provide 10 year follow\u2010up of an earlier reported patient, highlighting the progression and complexity of the disorder. Metabolic studies showed reduced glucose tolerance with prevalence of amino acids and fatty acids catabolism, ketogenesis, and gluconeogenesis, resulting in a Krebs cycle reversion.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38124","type":"journal-article","created":{"date-parts":[[2017,5,2]],"date-time":"2017-05-02T10:24:35Z","timestamp":1493720675000},"page":"1896-1902","source":"Crossref","is-referenced-by-count":12,"title":["Alterations in metabolic patterns have a key role in diagnosis and progression of primrose syndrome"],"prefix":"10.1002","volume":"173","author":[{"given":"Alberto","family":"Casertano","sequence":"first","affiliation":[{"name":"Department of Translational Medical Sciences Section of Pediatrics Federico II University Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paolo","family":"Fontana","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Medical Biotechnology Federico II University Naples 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