{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,10,20]],"date-time":"2024-10-20T21:10:07Z","timestamp":1729458607692,"version":"3.27.0"},"reference-count":13,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,5,20]]},"DOI":"10.7759\/cureus.39271","type":"journal-article","created":{"date-parts":[[2023,5,20]],"date-time":"2023-05-20T22:54:00Z","timestamp":1684623240000},"source":"Crossref","is-referenced-by-count":0,"title":["A Case Study of Early Diagnosed Angelman Syndrome: Recognizing Atypical Clinical Presentations"],"prefix":"10.7759","author":[{"given":"Han","family":"Dang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandhya","family":"Srinivasa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sun Young","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Clifford","family":"Alprin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/C2016-0-03969-4","article-title":"Non-mendelian genetics","author":"Klugman S","year":"2019","unstructured":"Klugman S, Rabin-Havt S. Non-mendelian genetics. Perinatal Genetics. Elsevier, St. Louis, MO; 2019. 11-19. 10.1016\/C2016-0-03969-4"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1159\/000328837","article-title":"Molecular and Clinical Aspects of Angelman Syndrome","volume":"2","author":"Dagli A","year":"2012","unstructured":"Dagli A, Buiting K, Williams CA. Molecular and Clinical Aspects of Angelman Syndrome. Mol Syndromol. 2012, 2:100-12. 10.1159\/000328837","journal-title":"Mol Syndromol"},{"key":"ref3","article-title":"Molecular diagnosis of genetic diseases","author":"Grody W","year":"2021","unstructured":"Grody W. Molecular diagnosis of genetic diseases. Henry\u2019s Clinical Diagnosis and Management by Laboratory Methods. Elsevier, Philadelphia, PA; 2021. 1434-51."},{"key":"ref4","doi-asserted-by":"crossref","DOI":"10.1684\/j.1950-6945.2005.tb00095.x","article-title":"Analysis of the characteristics of epilepsy in 37 patients with the molecular diagnosis of angelman syndrome","volume":"7","author":"Galv\u00e1n-Manso M","year":"2005","unstructured":"Galv\u00e1n-Manso M, Campistol J, Conill J, Sanmart\u00ed F. Analysis of the characteristics of epilepsy in 37 patients with the molecular diagnosis of angelman syndrome. Epileptic Disord. 2005, 7:19-25.","journal-title":"Epileptic Disord"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33184","article-title":"The MECP2 duplication syndrome","volume":"152A","author":"Ramocki MB","year":"2010","unstructured":"Ramocki MB, Tavyev YJ, Peters SU. The MECP2 duplication syndrome. Am J Med Genet A. 2010, 152A:1079-88. 10.1002\/ajmg.a.33184","journal-title":"Am J Med Genet A"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.282","article-title":"De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila","volume":"24","author":"Lugtenberg D","year":"2016","unstructured":"Lugtenberg D, Reijnders MR, Fenckova M, et al.. De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila. Eur J Hum Genet. 2016, 24:1145-53. 10.1038\/ejhg.2015.282","journal-title":"Eur J Hum Genet"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2015-103069","article-title":"WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome","volume":"52","author":"DeSanto C","year":"2015","unstructured":"DeSanto C, D'Aco K, Araujo GC, et al.. WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome. J Med Genet. 2015, 52:754-61. 10.1136\/jmedgenet-2015-103069","journal-title":"J Med Genet"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-014-9755-y","article-title":"Adenylosuccinate lyase deficiency","volume":"38","author":"Jurecka A","year":"2015","unstructured":"Jurecka A, Zikanova M, Kmoch S, Tylki-Szyma\u0144ska A. Adenylosuccinate lyase deficiency. J Inherit Metab Dis. 2015, 38:231-42. 10.1007\/s10545-014-9755-y","journal-title":"J Inherit Metab Dis"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62673","article-title":"Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia","volume":"188","author":"Lines MA","year":"2022","unstructured":"Lines MA, Goldenberg P, Wong A, et al.. Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia. Am J Med Genet A. 2022, 188:1667-75. 10.1002\/ajmg.a.62673","journal-title":"Am J Med Genet A"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181def138","article-title":"Clinical and genetic aspects of Angelman syndrome","volume":"12","author":"Williams CA","year":"2010","unstructured":"Williams CA, Driscoll DJ, Dagli AI. Clinical and genetic aspects of Angelman syndrome. Genet Med. 2010, 12:385-95. 10.1097\/GIM.0b013e3181def138","journal-title":"Genet Med"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1136\/bcr.06.2010.3081","article-title":"Do the physiotherapy results make us happy in a case with 'happy puppet' (Angelman) syndrome?","volume":"2010","author":"Kara OK","year":"2010","unstructured":"Kara OK, Mutlu A, Gunel MK, Haliloglu G. Do the physiotherapy results make us happy in a case with 'happy puppet' (Angelman) syndrome?. BMJ Case Rep. 2010, 2010:10.1136\/bcr.06.2010.3081","journal-title":"BMJ Case Rep"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.14257","article-title":"Communication in Angelman syndrome: a scoping review","volume":"61","author":"Pearson E","year":"2019","unstructured":"Pearson E, Wilde L, Heald M, Royston R, Oliver C. Communication in Angelman syndrome: a scoping review. Dev Med Child Neurol. 2019, 61:1266-74. 10.1111\/dmcn.14257","journal-title":"Dev Med Child Neurol"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1044\/2015_AJSLP-15-0017","article-title":"Description and Evaluation of a Home-Based, Parent-Administered Program for Teaching Enhanced Natural Gestures to Individuals With Angelman Syndrome","volume":"25","author":"Calculator SN","year":"2016","unstructured":"Calculator SN. Description and Evaluation of a Home-Based, Parent-Administered Program for Teaching Enhanced Natural Gestures to Individuals With Angelman Syndrome. Am J Speech Lang Pathol. 2016, 25:1-13. 10.1044\/2015_AJSLP-15-0017","journal-title":"Am J Speech Lang Pathol"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/154547-a-case-study-of-early-diagnosed-angelman-syndrome-recognizing-atypical-clinical-presentations","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,10,20]],"date-time":"2024-10-20T20:29:06Z","timestamp":1729456146000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/154547-a-case-study-of-early-diagnosed-angelman-syndrome-recognizing-atypical-clinical-presentations"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5,20]]},"references-count":13,"URL":"https:\/\/doi.org\/10.7759\/cureus.39271","relation":{},"ISSN":["2168-8184"],"issn-type":[{"type":"print","value":"2168-8184"}],"subject":[],"published":{"date-parts":[[2023,5,20]]}}}