{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T03:36:12Z","timestamp":1783568172735,"version":"3.55.0"},"reference-count":19,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2022,4,1]],"date-time":"2022-04-01T00:00:00Z","timestamp":1648771200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,4,1]],"date-time":"2022-04-01T00:00:00Z","timestamp":1648771200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2021,12,24]],"date-time":"2021-12-24T00:00:00Z","timestamp":1640304000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of the Formosan Medical Association"],"published-print":{"date-parts":[[2022,4]]},"DOI":"10.1016\/j.jfma.2021.12.022","type":"journal-article","created":{"date-parts":[[2022,1,10]],"date-time":"2022-01-10T02:51:09Z","timestamp":1641783069000},"page":"856-860","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":4,"title":["Short stature leads to a diagnosis of Jansen\u2013de Vries syndrome in two unrelated Taiwanese girls: A case report and literature review"],"prefix":"10.1016","volume":"121","author":[{"given":"Meng-Ju Melody","family":"Tsai","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5011-7499","authenticated-orcid":false,"given":"Ni-Chung","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yin-Hsiu","family":"Chien","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wuh-Liang","family":"Hwu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0466-3891","authenticated-orcid":false,"given":"Yi-Ching","family":"Tung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jfma.2021.12.022_bib1","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1016\/j.beem.2018.05.012","article-title":"Genetic causes of proportionate short stature","volume":"32","author":"Argente","year":"2018","journal-title":"Best Pract Res Clin Endocrinol Metab"},{"key":"10.1016\/j.jfma.2021.12.022_bib2","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1038\/nrg3999","article-title":"Genetic studies in intellectual disability and related disorders","volume":"17","author":"Vissers","year":"2016","journal-title":"Nat Rev Genet"},{"key":"10.1016\/j.jfma.2021.12.022_bib3","doi-asserted-by":"crossref","first-page":"6048","DOI":"10.1073\/pnas.94.12.6048","article-title":"Wip1, a novel human protein phosphatase that is induced in response to ionizing radiation in a p53-dependent manner","volume":"94","author":"Fiscella","year":"1997","journal-title":"Proc Natl Acad Sci Unit States Am"},{"key":"10.1016\/j.jfma.2021.12.022_bib4","doi-asserted-by":"crossref","first-page":"1194","DOI":"10.1038\/nn.4352","article-title":"Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability","volume":"19","author":"Lelieveld","year":"2016","journal-title":"Nat Neurosci"},{"key":"10.1016\/j.jfma.2021.12.022_bib5","doi-asserted-by":"crossref","first-page":"650","DOI":"10.1016\/j.ajhg.2017.02.005","article-title":"De novo truncating mutations in the last and penultimate exons of PPM1D cause an intellectual disability syndrome","volume":"100","author":"Jansen","year":"2017","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jfma.2021.12.022_bib6","doi-asserted-by":"crossref","first-page":"538","DOI":"10.1016\/j.braindev.2019.02.007","article-title":"Two unrelated girls with intellectual disability associated with a truncating mutation in the PPM1D penultimate exon","volume":"41","author":"Kuroda","year":"2019","journal-title":"Brain Dev"},{"key":"10.1016\/j.jfma.2021.12.022_bib7","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1016\/j.ejmg.2018.05.006","article-title":"Novel truncating PPM1D mutation in a patient with intellectual disability","volume":"62","author":"Porrmann","year":"2019","journal-title":"Eur J Med Genet"},{"key":"10.1016\/j.jfma.2021.12.022_bib8","article-title":"Novel truncating variant of PPM1D penultimate exon in a Chinese patient with Jansen-de Vries syndrome","volume":"8","author":"Li","year":"2020","journal-title":"Mol Genet Genomic Med"},{"key":"10.1016\/j.jfma.2021.12.022_bib9","series-title":"Jansen-de Vries syndrome. First case diagnosed in Spain","author":"Mart\u00edn Fern\u00e1ndez-Mayoralas","year":"2021"},{"key":"10.1016\/j.jfma.2021.12.022_bib10","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1038\/ng.3792","article-title":"Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases","volume":"49","author":"Stessman","year":"2017","journal-title":"Nat Genet"},{"key":"10.1016\/j.jfma.2021.12.022_bib11","doi-asserted-by":"crossref","first-page":"1398","DOI":"10.1038\/s41431-019-0401-x","article-title":"Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes","volume":"27","author":"Schmitz-Abe","year":"2019","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.jfma.2021.12.022_bib12","doi-asserted-by":"crossref","first-page":"1381","DOI":"10.1007\/s00439-020-02178-8","article-title":"Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders","volume":"139","author":"Tran Mau-Them","year":"2020","journal-title":"Hum Genet"},{"key":"10.1016\/j.jfma.2021.12.022_bib13","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"10.1016\/j.jfma.2021.12.022_bib14","doi-asserted-by":"crossref","first-page":"1071","DOI":"10.1038\/nature08467","article-title":"The DNA-damage response in human biology and disease","volume":"461","author":"Jackson","year":"2009","journal-title":"Nature"},{"key":"10.1016\/j.jfma.2021.12.022_bib15","doi-asserted-by":"crossref","first-page":"818","DOI":"10.1038\/s41419-019-2057-4","article-title":"Truncated PPM1D impairs stem cell response to genotoxic stress and promotes growth of APC-deficient tumors in the mouse colon","volume":"10","author":"Burocziova","year":"2019","journal-title":"Cell Death Dis"},{"key":"10.1016\/j.jfma.2021.12.022_bib16","doi-asserted-by":"crossref","first-page":"109956","DOI":"10.1016\/j.biopha.2020.109956","article-title":"The role of PPM1D in cancer and advances in studies of its inhibitors","volume":"125","author":"Deng","year":"2020","journal-title":"Biomed Pharmacother"},{"key":"10.1016\/j.jfma.2021.12.022_bib17","doi-asserted-by":"crossref","first-page":"1309","DOI":"10.1016\/j.bbrc.2020.10.010","article-title":"Wip1 phosphatase deficiency impairs spatial learning and memory","volume":"533","author":"Liu","year":"2020","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1016\/j.jfma.2021.12.022_bib18","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1007\/s10495-009-0444-5","article-title":"Sculpturing digit shape by cell death","volume":"15","author":"Montero","year":"2010","journal-title":"Apoptosis"},{"key":"10.1016\/j.jfma.2021.12.022_bib19","doi-asserted-by":"crossref","first-page":"2380","DOI":"10.1016\/j.biomaterials.2012.12.009","article-title":"The modulation of the oxidative stress response in chondrocytes by Wip1 and its effect on senescence and dedifferentiation during in\u00a0vitro expansion","volume":"34","author":"Cha","year":"2013","journal-title":"Biomaterials"}],"container-title":["Journal of the Formosan Medical Association"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0929664621005878?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0929664621005878?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,15]],"date-time":"2025-10-15T14:47:07Z","timestamp":1760539627000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0929664621005878"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,4]]},"references-count":19,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2022,4]]}},"alternative-id":["S0929664621005878"],"URL":"https:\/\/doi.org\/10.1016\/j.jfma.2021.12.022","relation":{},"ISSN":["0929-6646"],"issn-type":[{"value":"0929-6646","type":"print"}],"subject":[],"published":{"date-parts":[[2022,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Short stature leads to a diagnosis of Jansen\u2013de Vries syndrome in two unrelated Taiwanese girls: A case report and literature review","name":"articletitle","label":"Article Title"},{"value":"Journal of the Formosan Medical Association","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jfma.2021.12.022","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 Formosan Medical Association. Published by Elsevier Taiwan LLC.","name":"copyright","label":"Copyright"}]}}