{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T16:09:03Z","timestamp":1787501343209,"version":"build-2736575974"},"reference-count":14,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2019,2,25]],"date-time":"2019-02-25T00:00:00Z","timestamp":1551052800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Mclaughlin Center - University of Toronto","award":["MC-2015-08"],"award-info":[{"award-number":["MC-2015-08"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2019,4]]},"abstract":"\n Parathyroid hormone like hormone (PTHLH) signaling is essential for the proper formation of bone and its elevation or disruption has been directly implicated in several different skeletal dysplasias. We report a patient with a 2.802\u2009Mb deletion upstream of the\n PTHLH<\/jats:italic>\n coding sequence who presents with multiple fractures, metaphyseal changes, and overall features consistent with hyperparathyroid like disease. Analysis of the deleted region revealed the loss of putative regulatory regions adjacent to\n PTHLH<\/jats:italic>\n and the possible gain of a limb enhancer. Furthermore,\n PTHLH<\/jats:italic>\n expression appeared to be mis\u2010regulated in fibroblasts derived from the patient. Altogether, we find that the disruption of the regulatory landscape of\n PTHLH<\/jats:italic>\n likely results in its inappropriate expression and this novel clinical presentation.\n <\/jats:p>","DOI":"10.1002\/ajmg.a.61071","type":"journal-article","created":{"date-parts":[[2019,2,26]],"date-time":"2019-02-26T01:15:16Z","timestamp":1551143716000},"page":"663-667","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Disruption of the PTHLH regulatory landscape results in features consistent with hyperparathyroid disease"],"prefix":"10.1002","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9239-3846","authenticated-orcid":false,"given":"Ashish R.","family":"Deshwar","sequence":"first","affiliation":[{"name":"Division of Clinical and Metabolic Genetics and University of Toronto, Department of Paediatrics The Hospital for Sick Children Toronto Ontario Canada"},{"name":"Medical Genetics Residency Training 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