{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T02:43:43Z","timestamp":1747190623220,"version":"3.40.5"},"reference-count":7,"publisher":"Wiley","license":[{"start":{"date-parts":[[2021,9,13]],"date-time":"2021-09-13T00:00:00Z","timestamp":1631491200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Ho Chi Minh City Hospital of Dermato-Venereology"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Genetics"],"published-print":{"date-parts":[[2021,9,13]]},"abstract":"<jats:p>LEOPARD syndrome is a rare congenital anomaly that involves several organs. Patients with this syndrome develop multiple lentigines resembling a leopard\u2019s hide. LEOPARD is an acronym of the major features constituting the syndrome including lentigines, electrocardiographic conduction defects, ocular hypertelorism, pulmonary valve stenosis, anomalies of genitalia, retardation of growth, and deafness. The syndrome is rare, and only 200 cases have been reported yet worldwide. We present the case of an 8-year-old female patient who visited the Ho Chi Minh City Hospital of Dermato-Venereology because of multiple brownish-black \u201cdots\u201d on her face and body. On examination, she also showed abnormalities in the maxillofacial bones, vertebrae, shoulders, sternum, and teeth, as well as deaf-mutism and growth retardation, which are typical of LEOPARD syndrome. Genetic analysis revealed a PTPN11 gene mutation in this case. To the best of our knowledge, this is the first case of LEOPARD syndrome reported in Vietnam.<\/jats:p>","DOI":"10.1155\/2021\/8197435","type":"journal-article","created":{"date-parts":[[2021,9,13]],"date-time":"2021-09-13T16:35:14Z","timestamp":1631550914000},"page":"1-5","source":"Crossref","is-referenced-by-count":1,"title":["The First Vietnamese Patient of LEOPARD Syndrome due to a PTPN11 Mutation: A Case Report and Review of the Literature"],"prefix":"10.1155","volume":"2021","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7732-0497","authenticated-orcid":true,"given":"Hao Trong","family":"Nguyen","sequence":"first","affiliation":[{"name":"Ho Chi Minh City Hospital of Dermato-Venereology, Ho Chi Minh City, Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nguyen Nhat","family":"Pham","sequence":"additional","affiliation":[{"name":"Ho Chi Minh City Hospital of Dermato-Venereology, Ho Chi Minh City, Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hoang","family":"Anh Vu","sequence":"additional","affiliation":[{"name":"Center for Molecular Biomedicine, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1111-9659","authenticated-orcid":true,"given":"Tu Nguyen Anh","family":"Tran","sequence":"additional","affiliation":[{"name":"Ho Chi Minh City Hospital of Dermato-Venereology, Ho Chi Minh City, Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-3-13"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-15-44"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1590\/abd1806-4841.20174505"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.5070\/d32110028958"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.2340\/00015555-2123"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.4103\/0970-4388.149008"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-013-2243-9"}],"container-title":["Case Reports in Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2021\/8197435.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2021\/8197435.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crig\/2021\/8197435.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,9,18]],"date-time":"2021-09-18T03:57:21Z","timestamp":1631937441000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.hindawi.com\/journals\/crig\/2021\/8197435\/"}},"subtitle":[],"editor":[{"given":"Yoshiyuki","family":"Ban","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2021,9,13]]},"references-count":7,"alternative-id":["8197435","8197435"],"URL":"https:\/\/doi.org\/10.1155\/2021\/8197435","relation":{},"ISSN":["2090-6552","2090-6544"],"issn-type":[{"type":"electronic","value":"2090-6552"},{"type":"print","value":"2090-6544"}],"subject":[],"published":{"date-parts":[[2021,9,13]]}}}