{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T12:16:06Z","timestamp":1780316166255,"version":"3.54.1"},"reference-count":10,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,4]]},"DOI":"10.1097\/mcd.0000000000000256","type":"journal-article","created":{"date-parts":[[2019,3,10]],"date-time":"2019-03-10T12:16:09Z","timestamp":1552220169000},"page":"91-93","source":"Crossref","is-referenced-by-count":12,"title":["Novel mutation in MASP1 gene in a new family with 3MC syndrome"],"prefix":"10.1097","volume":"28","author":[{"given":"Muserref","family":"Basdemirci","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Dr Ali Kemal Belviranli Maternity and Pediatric Hospital, Konya"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Askin","family":"Sen","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Firat University School of Medicine, Elazig"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serdar","family":"Ceylaner","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Intergen Genetic Center, Ankara, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-20230913","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1186\/s13023-015-0345-3","article-title":"Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome","volume":"10","author":"Atik","year":"2015","journal-title":"Orphanet J Rare Dis"},{"key":"R2-20230913","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1002\/ajmg.1320330210","article-title":"Ptosis of eyelids, strabismus, diastasis recti, hip defect, cryptorchidism, and developmental delay in two sibs","volume":"33","author":"Carnevale","year":"1989","journal-title":"Am J Med Genet"},{"key":"R3-20230913","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1597\/15-151","article-title":"Familial recurrence of 3MC syndrome in consanguineous families: a clinical and molecular diagnostic approach with review of the literature","volume":"54","author":"Gardner","year":"2017","journal-title":"Cleft Palate Craniofac J"},{"key":"R4-20230913","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1016\/j.ejmg.2018.01.016","article-title":"Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndrome","volume":"61","author":"Graul-Neumann","year":"2018","journal-title":"Eur J Med Genet"},{"key":"R5-20230913","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1002\/ajmg.a.30662","article-title":"Malpuech syndrome: three patients and a review","volume":"134","author":"Kerstjens-Frederikse","year":"2005","journal-title":"Am J Med Genet A"},{"key":"R6-20230913","doi-asserted-by":"crossref","first-page":"444","DOI":"10.1016\/S0022-3476(78)81154-8","article-title":"A clefting syndrome with ocular anterior chamber defect and lid anomalies","volume":"93","author":"Michels","year":"1978","journal-title":"J Pediatr"},{"key":"R7-20230913","doi-asserted-by":"crossref","first-page":"884","DOI":"10.1136\/jmg.33.10.884","article-title":"Two sisters with a syndrome of ocular, skeletal, and abdominal abnormalities (OSA syndrome)","volume":"33","author":"Mingarelli","year":"1996","journal-title":"J Med Genet"},{"key":"R8-20230913","doi-asserted-by":"crossref","first-page":"e1006679","DOI":"10.1371\/journal.pgen.1006679","article-title":"COLEC10 is mutated in 3MC patients and regulates early craniofacial development","volume":"13","author":"Munye","year":"2017","journal-title":"PLoS Genet"},{"key":"R9-20230913","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1038\/ng.757","article-title":"Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome","volume":"43","author":"Rooryck","year":"2011","journal-title":"Nat Genet"},{"key":"R11-20230913","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1002\/ajmg.a.30878","article-title":"Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: variable expression of a single disorder (3MC syndrome)?","volume":"137","author":"Titomanlio","year":"2005","journal-title":"Am J Med Genet A"}],"container-title":["Clinical Dysmorphology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.lww.com\/00019605-201904000-00009","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,13]],"date-time":"2023-09-13T21:03:30Z","timestamp":1694639010000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.lww.com\/00019605-201904000-00009"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,4]]},"references-count":10,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2019]]}},"URL":"https:\/\/doi.org\/10.1097\/mcd.0000000000000256","relation":{},"ISSN":["0962-8827"],"issn-type":[{"value":"0962-8827","type":"print"}],"subject":[],"published":{"date-parts":[[2019,4]]}}}