{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,16]],"date-time":"2026-04-16T13:48:32Z","timestamp":1776347312822,"version":"3.51.2"},"reference-count":16,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2020,9,1]],"date-time":"2020-09-01T00:00:00Z","timestamp":1598918400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,9,1]],"date-time":"2020-09-01T00:00:00Z","timestamp":1598918400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2020,12,14]],"date-time":"2020-12-14T00:00:00Z","timestamp":1607904000000},"content-version":"vor","delay-in-days":104,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["aaceclinicalcasereports.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["AACE Clinical Case Reports"],"published-print":{"date-parts":[[2020,9]]},"DOI":"10.4158\/accr-2020-0161","type":"journal-article","created":{"date-parts":[[2020,6,23]],"date-time":"2020-06-23T19:42:11Z","timestamp":1592941331000},"page":"e243-e246","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":5,"title":["Early Onset of Mody5 Due to Haploinsufficiency of HNF1B"],"prefix":"10.1016","volume":"6","author":[{"given":"Carmen","family":"Bustamante","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Janine","family":"Sanchez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tossaporn","family":"Seeherunvong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Supamit","family":"Ukarapong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.4158\/ACCR-2020-0161_bb0010","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1093\/ckj\/sfy102","article-title":"Variable phenotype in HNF1B mutations: extrarenal manifestations distinguish affected individuals from the population with congenital anomalies of the kidney and urinary tract","volume":"12","author":"Madariaga","year":"2019","journal-title":"Clin Kidney J"},{"key":"10.4158\/ACCR-2020-0161_bb0015","doi-asserted-by":"crossref","first-page":"2703","DOI":"10.1093\/ndt\/gfh348","article-title":"Renal cysts and diabetes syndrome resulting from mutations in hepatocyte nuclear factor-1beta","volume":"19","author":"Bingham","year":"2004","journal-title":"Nephrol Dial Transplant"},{"key":"10.4158\/ACCR-2020-0161_bb0020","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1111\/j.1464-5491.2012.03709.x","article-title":"HNF1B deletions in patients with young-onset diabetes but no known renal disease","volume":"30","author":"Edghill","year":"2013","journal-title":"Diabet Med"},{"key":"10.4158\/ACCR-2020-0161_bb0025","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1007\/s00125-016-4167-1","article-title":"Targeted next-generation sequencing reveals MODY in up to 6.5% of antibody-negative diabetes cases listed in the Norwegian Childhood Diabetes Registry","volume":"60","author":"Johansson","year":"2017","journal-title":"Diabetologia"},{"key":"10.4158\/ACCR-2020-0161_bb0030","doi-asserted-by":"crossref","first-page":"845","DOI":"10.1210\/jc.2018-01696","article-title":"Frequency and characteristics of MODY 1 (HNF4A Mutation) and MODY 5 (HNF1B Mutation): analysis from the DPV database","volume":"104","author":"Warncke","year":"2019","journal-title":"J Clin Endocrinol Metab"},{"key":"10.4158\/ACCR-2020-0161_bb0035","doi-asserted-by":"crossref","first-page":"1436","DOI":"10.2337\/dc16-2462","article-title":"Diabetes, associated clinical spectrum, long-term prognosis, and genotype\/phenotype correlations in 201 adult patients with hepatocyte nuclear factor 1B (HNF1B) molecular defects","volume":"40","author":"Dubois-Laforgue","year":"2017","journal-title":"Diabetes Care"},{"key":"10.4158\/ACCR-2020-0161_bb0040","doi-asserted-by":"crossref","first-page":"871","DOI":"10.1242\/dev.110759","article-title":"Hnf1b controls pancreas morphogenesis and the generation of Ngn3+ endocrine progenitors","volume":"142","author":"De Vas","year":"2015","journal-title":"Development"},{"key":"10.4158\/ACCR-2020-0161_bb0045","doi-asserted-by":"crossref","first-page":"109568","DOI":"10.1016\/j.cellsig.2020.109568","article-title":"Role of transcription factor hepatocyte nuclear factor-1beta in polycystic kidney disease","volume":"71","author":"Shao","year":"2020","journal-title":"Cell Signal"},{"key":"10.4158\/ACCR-2020-0161_bb0050","doi-asserted-by":"crossref","first-page":"744","DOI":"10.1002\/pd.4858","article-title":"Fetal anomalies associated with HNF1B mutations: report of 20 autopsy cases","volume":"36","author":"Duval","year":"2016","journal-title":"Prenat Diagn"},{"key":"10.4158\/ACCR-2020-0161_bb0055","doi-asserted-by":"crossref","first-page":"390","DOI":"10.1093\/ndt\/gfz028","article-title":"Personalized medicine in chronic kidney disease by detection of monogenic mutations","volume":"35","author":"Connaughton","year":"2020","journal-title":"Nephrol Dial Transplant"},{"key":"10.4158\/ACCR-2020-0161_bb0060","doi-asserted-by":"crossref","first-page":"835","DOI":"10.1093\/ndt\/gfu370","article-title":"Criteria for HNF1B analysis in patients with congenital abnormalities of kidney and urinary tract","volume":"30","author":"Raaijmakers","year":"2015","journal-title":"Nephrol Dial Transplant"},{"key":"10.4158\/ACCR-2020-0161_bb0065","doi-asserted-by":"crossref","first-page":"3601","DOI":"10.1210\/jc.2018-00955","article-title":"17q12 deletion syndrome as a rare cause for diabetes mellitus type MODY5","volume":"103","author":"Roehlen","year":"2018","journal-title":"J Clin Endocrinol Metab"},{"key":"10.4158\/ACCR-2020-0161_bb0070","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1136\/archdischild-2014-306810","article-title":"Towards a new point of view on the phenotype of patients with a 17q12 microdeletion syndrome","volume":"100","author":"Laffargue","year":"2015","journal-title":"Arch Dis Child"},{"key":"10.4158\/ACCR-2020-0161_bb0075","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1016\/j.kint.2016.03.027","article-title":"Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder","volume":"90","author":"Clissold","year":"2016","journal-title":"Kidney Int"},{"key":"10.4158\/ACCR-2020-0161_bb0080","doi-asserted-by":"crossref","first-page":"1301","DOI":"10.1111\/j.1464-5491.2006.01999.x","article-title":"Hepatocyte nuclear factor-1 beta mutations cause neonatal diabetes and intrauterine growth retardation: support for a critical role of HNF-1beta in human pancreatic development","volume":"23","author":"Edghill","year":"2006","journal-title":"Diabet Med"},{"key":"10.4158\/ACCR-2020-0161_bb0085","doi-asserted-by":"crossref","first-page":"2905","DOI":"10.1210\/jc.2003-031828","article-title":"Neonatal diabetes mellitus and neonatal polycystic, dysplastic kidneys: Phenotypically discordant recurrence of a mutation in the hepatocyte nuclear factor-1beta gene due to germline mosaicism","volume":"89","author":"Yorifuji","year":"2004","journal-title":"J Clin Endocrinol Metab"}],"container-title":["AACE Clinical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2376060520306209?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2376060520306209?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T06:31:27Z","timestamp":1762497087000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2376060520306209"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,9]]},"references-count":16,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2020,9]]}},"alternative-id":["S2376060520306209"],"URL":"https:\/\/doi.org\/10.4158\/accr-2020-0161","relation":{},"ISSN":["2376-0605"],"issn-type":[{"value":"2376-0605","type":"print"}],"subject":[],"published":{"date-parts":[[2020,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Early Onset of Mody5 Due to Haploinsufficiency of HNF1B","name":"articletitle","label":"Article Title"},{"value":"AACE Clinical Case Reports","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.4158\/ACCR-2020-0161","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2020 Elsevier Inc.","name":"copyright","label":"Copyright"}]}}