{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,22]],"date-time":"2026-01-22T13:09:46Z","timestamp":1769087386952,"version":"3.49.0"},"reference-count":9,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"3","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2023,7]]},"DOI":"10.1097\/mcd.0000000000000458","type":"journal-article","created":{"date-parts":[[2023,5,17]],"date-time":"2023-05-17T15:07:30Z","timestamp":1684336050000},"page":"124-128","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":2,"title":["Intragenic FOXC1 deletion in a Vietnamese child with Axenfeld\u2013Rieger syndrome: case report and review of literature"],"prefix":"10.1097","volume":"32","author":[{"given":"Ashley Shuen Ying","family":"Hong","sequence":"first","affiliation":[{"name":"Yong Loo Lin School of Medicine, National University of Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiin Ying","family":"Lim","sequence":"additional","affiliation":[{"name":"Genetics Service, Department of Paediatrics, KK Women\u2019s and Children\u2019s Hospital"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mas Suhaila","family":"Isa","sequence":"additional","affiliation":[{"name":"Kinder Clinic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wendy Kein-Meng","family":"Liew","sequence":"additional","affiliation":[{"name":"Wendy Liew Paediatric Clinic and Child Neurology Centre"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barrie","family":"Tan","sequence":"additional","affiliation":[{"name":"Barrie Tan ENT Head & Neck Surgery"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ching Lin","family":"Ho","sequence":"additional","affiliation":[{"name":"Singapore National Eye Centre"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seo Wei","family":"Leo","sequence":"additional","affiliation":[{"name":"Dr Leo Adult and Paediatric Eye Specialist Pte Ltd, Singapore, Singapore"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saumya Shekhar","family":"Jamuar","sequence":"additional","affiliation":[{"name":"Yong Loo Lin School of Medicine, National University of Singapore"},{"name":"Genetics Service, Department of Paediatrics, KK Women\u2019s and Children\u2019s Hospital"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"276","published-online":{"date-parts":[[2023,5,1]]},"reference":[{"key":"R1-20250524","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1016\/S0002-9394(00)00525-0","article-title":"Axenfeld-Rieger syndrome in the age of molecular genetics.","volume":"130","author":"Alward","year":"2000","journal-title":"Am J Ophthalmol"},{"key":"R2-20250524","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1186\/s13005-022-00329-y","article-title":"Axenfeld-Rieger syndrome: orthopedic and orthodontic management in a pediatric patient: a case report.","volume":"18","author":"Cazzolla","year":"2022","journal-title":"Head Face Med"},{"key":"R3-20250524","first-page":"60","article-title":"Molecular mechanisms of retinal ganglion cell degeneration in glaucoma and future prospects for cell body and axonal protection.","volume":"6","author":"Munemasa","year":"2012","journal-title":"Front Cell Neurosci"},{"key":"R4-20250524","doi-asserted-by":"crossref","first-page":"1224","DOI":"10.1038\/ejhg.2012.80","article-title":"PITX2 and FOXC1 spectrum of mutations in ocular syndromes.","volume":"20","author":"Reis","year":"2012","journal-title":"Eur J Hum Genet"},{"key":"R5-20250524","doi-asserted-by":"crossref","first-page":"1123","DOI":"10.1111\/cge.13148","article-title":"Axenfeld-Rieger syndrome.","volume":"93","author":"Seifi","year":"2018","journal-title":"Clin Genet"},{"key":"R6-20250524","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1002\/humu.23141","article-title":"Comparison of bioinformatics prediction, molecular modeling, and functional analyses of FOXC1 mutations in patients with Axenfeld-Rieger syndrome.","volume":"38","author":"Seifi","year":"2017","journal-title":"Hum Mutat"},{"key":"R7-20250524","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1016\/0039-6257(85)90205-X","article-title":"Axenfeld-Rieger syndrome. A spectrum of developmental disorders.","volume":"29","author":"Shields","year":"1985","journal-title":"Surv Ophthalmol"},{"key":"R8-20250524","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1167\/iovs.06-0472","article-title":"Genotype-phenotype correlations in Axenfeld-Rieger malformation and glaucoma patients with FOXC1 and PITX2 mutations.","volume":"48","author":"Strungaru","year":"2007","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"R9-20250524","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1186\/s12920-021-01130-7","article-title":"A novel variant in FOXC1 associated with atypical Axenfeld-Rieger syndrome.","volume":"14","author":"Wang","year":"2021","journal-title":"BMC Med Genomics"}],"container-title":["Clinical Dysmorphology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.lww.com\/10.1097\/MCD.0000000000000458","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,24]],"date-time":"2025-05-24T20:01:48Z","timestamp":1748116908000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.lww.com\/10.1097\/MCD.0000000000000458"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5,1]]},"references-count":9,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2023]]}},"URL":"https:\/\/doi.org\/10.1097\/mcd.0000000000000458","relation":{},"ISSN":["0962-8827"],"issn-type":[{"value":"0962-8827","type":"print"}],"subject":[],"published":{"date-parts":[[2023,5,1]]}}}