{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T00:29:28Z","timestamp":1762475368820,"version":"build-2065373602"},"reference-count":7,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2022,3,1]],"date-time":"2022-03-01T00:00:00Z","timestamp":1646092800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,3,1]],"date-time":"2022-03-01T00:00:00Z","timestamp":1646092800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,1,5]],"date-time":"2022-01-05T00:00:00Z","timestamp":1641340800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["jaadcasereports.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["JAAD Case Reports"],"published-print":{"date-parts":[[2022,3]]},"DOI":"10.1016\/j.jdcr.2021.12.038","type":"journal-article","created":{"date-parts":[[2022,1,19]],"date-time":"2022-01-19T18:43:54Z","timestamp":1642617834000},"page":"103-105","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"special_numbering":"C","title":["A novel variant in the GNAS complex locus causes Albright hereditary osteodystrophy with pseudopseudohypoparathyroidism"],"prefix":"10.1016","volume":"21","author":[{"given":"Jeffrey S.","family":"Smith","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abdulrahman A.","family":"Aldeeri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Scott A.","family":"Elman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joel B.","family":"Krier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joseph F.","family":"Merola","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.jdcr.2021.12.038_bib1","doi-asserted-by":"crossref","first-page":"1412","DOI":"10.1056\/NEJM199005173222002","article-title":"Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright\u2019s hereditary osteodystrophy","volume":"322","author":"Patten","year":"1990","journal-title":"New Eng J Med"},{"key":"10.1016\/j.jdcr.2021.12.038_bib2","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1038\/nrd.2017.229","article-title":"Biased signalling: from simple switches to allosteric microprocessors","volume":"17","author":"Smith","year":"2018","journal-title":"Nat Rev Drug Discov"},{"key":"10.1016\/j.jdcr.2021.12.038_bib3","doi-asserted-by":"crossref","first-page":"8715","DOI":"10.1073\/pnas.95.15.8715","article-title":"Variable and tissue-specific hormone resistance in heterotrimeric Gs protein alpha-subunit (Gsalpha) knockout mice is due to tissue-specific imprinting of the gsalpha gene","volume":"95","author":"Yu","year":"1998","journal-title":"Proc Natl Acadu S A"},{"key":"10.1016\/j.jdcr.2021.12.038_bib4","doi-asserted-by":"crossref","first-page":"804","DOI":"10.1086\/429932","article-title":"A novel STX16 deletion in autosomal dominant pseudohypoparathyroidism type Ib redefines the boundaries of a cis-acting imprinting control element of GNAS","volume":"76","author":"Linglart","year":"2005","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jdcr.2021.12.038_bib5","doi-asserted-by":"crossref","first-page":"877","DOI":"10.1016\/j.jpeds.2006.08.050","article-title":"Presentation and clinical progression of pseudohypoparathyroidism with multi-hormone resistance and Albright hereditary osteodystrophy: a case series","volume":"149","author":"Gelfand","year":"2006","journal-title":"J Pediatr"},{"key":"10.1016\/j.jdcr.2021.12.038_bib6","doi-asserted-by":"crossref","first-page":"1844","DOI":"10.1210\/jc.2016-3544","article-title":"Progressive development of PTH resistance in patients with inactivating mutations on the maternal allele of GNAS","volume":"102","author":"Usardi","year":"2017","journal-title":"J Clin Endocrinol Metab"},{"key":"10.1016\/j.jdcr.2021.12.038_bib7","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1186\/1750-1172-8-141","article-title":"Brachydactyly E: isolated or as a feature of a syndrome","volume":"8","author":"Pereda","year":"2013","journal-title":"Orphanet J Rare Dis"}],"container-title":["JAAD Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2352512622000121?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2352512622000121?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T00:24:21Z","timestamp":1762475061000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2352512622000121"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,3]]},"references-count":7,"alternative-id":["S2352512622000121"],"URL":"https:\/\/doi.org\/10.1016\/j.jdcr.2021.12.038","relation":{},"ISSN":["2352-5126"],"issn-type":[{"type":"print","value":"2352-5126"}],"subject":[],"published":{"date-parts":[[2022,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A novel variant in the GNAS complex locus causes Albright hereditary osteodystrophy with pseudopseudohypoparathyroidism","name":"articletitle","label":"Article Title"},{"value":"JAAD Case Reports","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jdcr.2021.12.038","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 by the American Academy of Dermatology, Inc. Published by Elsevier, Inc.","name":"copyright","label":"Copyright"}]}}