{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T15:46:11Z","timestamp":1783007171242,"version":"3.54.5"},"reference-count":23,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2020,8,3]],"date-time":"2020-08-03T00:00:00Z","timestamp":1596412800000},"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":["Clinical Genetics"],"published-print":{"date-parts":[[2020,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Ciliopathies are a heterogeneous group of disorders, related to abnormal ciliary function. Severe biliary ciliopathy, caused by bi\u2010allelic mutations in\n                    <jats:italic>TTC26<\/jats:italic>\n                    , has been recently described in the context of a syndrome of polydactyly and severe neonatal cholestasis, with brain, kidney and heart involvement. Pituitary involvement has not been previously reported for patients with this condition. Pituitary stalk interruption syndrome (PSIS) is a congenital anomaly of the pituitary gland, diagnosed by characteristic MRI findings. We now describe four patients with\n                    <jats:italic>TTC26<\/jats:italic>\n                    ciliopathy due to a homozygous c.695A&gt;G p.Asn232Ser mutation and delineate PSIS as a novel clinical feature of this disorder, highlighting an important role of TTC26 in pituitary development.\n                  <\/jats:p>","DOI":"10.1111\/cge.13805","type":"journal-article","created":{"date-parts":[[2020,7,3]],"date-time":"2020-07-03T02:26:39Z","timestamp":1593743199000},"page":"303-307","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Pituitary stalk interruption syndrome broadens the clinical spectrum of the\n                    <scp>TTC26<\/scp>\n                    ciliopathy"],"prefix":"10.1111","volume":"98","author":[{"given":"Odeya","family":"David","sequence":"first","affiliation":[{"name":"Pediatric Endocrinology Unit Soroka University Medical Center  Beer\u2010Sheva Israel"},{"name":"Saban 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Soroka University Medical Center  Beer\u2010Sheva Israel"},{"name":"Faculty of Health Sciences Ben\u2010Gurion University of the Negev  Beer\u2010Sheva Israel"},{"name":"Pediatric Gastroenterology Unit Soroka University Medical Center  Beer\u2010Sheva Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vadim","family":"Dolgin","sequence":"additional","affiliation":[{"name":"Genetics Institute at Soroka University Medical Center and the Morris Kahn Laboratory of Human Genetics, National Center for Rare Diseases, at the Faculty of Health Sciences and National Institute for Biotechnology in the Negev Ben\u2010Gurion University of the Negev  Beer\u2010Sheva Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eyal","family":"Kristal","sequence":"additional","affiliation":[{"name":"Saban Pediatric Medical Center for Israel Soroka University Medical Center  Beer\u2010Sheva Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ela","family":"Benkowitz","sequence":"additional","affiliation":[{"name":"Radiology Department Soroka Medical Center  Beer\u2010Sheva Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lidia","family":"Osyntsov","sequence":"additional","affiliation":[{"name":"Institute of Pathology Soroka Medical Center  Beer\u2010Sheva Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Libe","family":"Gradstein","sequence":"additional","affiliation":[{"name":"Genetics Institute at Soroka University Medical Center and the Morris Kahn Laboratory of Human Genetics, National Center for Rare Diseases, at the Faculty of Health Sciences and National Institute for Biotechnology in the Negev Ben\u2010Gurion University of the Negev  Beer\u2010Sheva Israel"},{"name":"Ophthalmology Clinic Southern District, Clalit Health Services  Beer\u2010sheva Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ohad S.","family":"Birk","sequence":"additional","affiliation":[{"name":"Genetics Institute at Soroka University Medical Center and the Morris Kahn Laboratory of Human Genetics, National Center for Rare Diseases, at the Faculty of Health Sciences and National Institute for Biotechnology in the Negev Ben\u2010Gurion University of the Negev  Beer\u2010Sheva Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neta","family":"Loewenthal","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology Unit Soroka University Medical Center  Beer\u2010Sheva Israel"},{"name":"Saban Pediatric Medical Center for Israel Soroka University Medical Center  Beer\u2010Sheva Israel"},{"name":"Faculty of Health Sciences Ben\u2010Gurion University of the Negev  Beer\u2010Sheva Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Baruch","family":"Yerushalmi","sequence":"additional","affiliation":[{"name":"Saban Pediatric Medical Center for Israel Soroka University Medical Center  Beer\u2010Sheva Israel"},{"name":"Faculty of Health Sciences Ben\u2010Gurion University of the Negev  Beer\u2010Sheva Israel"},{"name":"Pediatric Gastroenterology Unit Soroka University Medical Center  Beer\u2010Sheva 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