{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,12]],"date-time":"2026-04-12T01:50:02Z","timestamp":1775958602425,"version":"3.50.1"},"reference-count":45,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2019,3,20]],"date-time":"2019-03-20T00:00:00Z","timestamp":1553040000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2019,6]]},"abstract":"<jats:p>Orofaciodigital syndrome type I and X\u2010linked recessive Joubert syndrome are known ciliopathic disorders that are caused by pathogenic variants in <jats:italic>OFD1<\/jats:italic> gene. Endocrine system involvement with these conditions is not well described. We present the first report of a newborn male with a novel hemizygous variant in <jats:italic>OFD1<\/jats:italic> gene c.515T&gt;C, (p.Leu172Pro) resulting in X\u2010linked Joubert syndrome and orofaciodigital features with complete pituitary gland aplasia and subsequent severe hypoplasia of peripheral endocrine glands. This clinical report expands the phenotypic spectrum of endocrine system involvement in <jats:italic>OFD1<\/jats:italic>\u2010related disorders and suggests that <jats:italic>OFD1<\/jats:italic> gene may be related to pituitary gland development.<\/jats:p>","DOI":"10.1002\/ajmg.a.61018","type":"journal-article","created":{"date-parts":[[2019,3,21]],"date-time":"2019-03-21T06:13:43Z","timestamp":1553148823000},"page":"1010-1014","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["A novel pathogenic variant in <i>OFD1<\/i> results in X\u2010linked Joubert syndrome with orofaciodigital features and pituitary aplasia"],"prefix":"10.1002","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0343-6083","authenticated-orcid":false,"given":"Deema","family":"Aljeaid","sequence":"first","affiliation":[{"name":"Division of Human Genetics Cincinnati Children's Hospital Medical Center  Cincinnati 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