{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T18:08:15Z","timestamp":1772993295469,"version":"3.50.1"},"reference-count":28,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2019,11,7]],"date-time":"2019-11-07T00:00:00Z","timestamp":1573084800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"DOI":"10.3389\/fped.2019.00457","type":"journal-article","created":{"date-parts":[[2019,11,7]],"date-time":"2019-11-07T04:57:51Z","timestamp":1573102671000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":9,"title":["Two Novel Mutations (c.883-4_890del and c.1684C&gt;G) of WDR62 Gene Associated With Autosomal Recessive Primary Microcephaly: A Case Report"],"prefix":"10.3389","volume":"7","author":[{"given":"You Gyoung","family":"Yi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dong-Woo","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jaewon","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ja-Hyun","family":"Jang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sae-Mi","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dae-Hyun","family":"Jang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2019,11,7]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"501","DOI":"10.1016\/j.tig.2009.09.011","article-title":"Primary microcephaly: do all roads lead to Rome?","volume":"25","author":"Thornton","year":"2009","journal-title":"Trends Genet"},{"key":"B2","doi-asserted-by":"publisher","first-page":"148","DOI":"10.5144\/0256-4947.2017.148","article-title":"A novel WDR62 mutation causes primary microcephaly in a large consanguineous Saudi family","volume":"37","author":"Naseer","year":"2017","journal-title":"Ann Saudi Med"},{"key":"B3","doi-asserted-by":"publisher","first-page":"58","DOI":"10.1016\/j.braindev.2017.07.003","article-title":"A novel mutation of WDR62 gene associated with severe phenotype including infantile spasm, microcephaly, and intellectual disability","volume":"40","author":"Nardello","year":"2018","journal-title":"Brain Dev"},{"key":"B4","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/s12881-014-0107-4","article-title":"A novel single base pair duplication in WDR62 causes primary microcephaly","volume":"15","author":"Rupp","year":"2014","journal-title":"BMC Med Genet"},{"key":"B5","doi-asserted-by":"publisher","first-page":"151","DOI":"10.1007\/s13353-019-00486-y","article-title":"A novel WDR62 missense mutation in microcephaly with abnormal cortical architecture and review of the literature","volume":"60","author":"Zombor","year":"2019","journal-title":"J Appl Genet"},{"key":"B6","first-page":"51","article-title":"Genetic study of microcephaly based on Japanese material","volume":"7","author":"Komai","year":"1955","journal-title":"Am J Hum Genet"},{"key":"B7","doi-asserted-by":"publisher","first-page":"135","DOI":"10.1055\/s-0037-1601448","article-title":"Autosomal recessive primary microcephaly (MCPH): an update","volume":"48","author":"Zaqout","year":"2017","journal-title":"Neuropediatrics"},{"key":"B8","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1186\/1750-1172-6-39","article-title":"Autosomal recessive primary microcephaly (MCPH): Clinical manifestations, genetic heterogeneity and mutation continuum","volume":"6","author":"Mahmood","year":"2011","journal-title":"Orphanet J Rare Dis"},{"key":"B9","doi-asserted-by":"publisher","first-page":"32","DOI":"10.1016\/j.stemcr.2017.05.015","article-title":"Glial-specific functions of microcephaly protein WDR62 and interaction with the mitotic kinase AURKA are essential for drosophila brain growth","volume":"9","author":"Lim","year":"2017","journal-title":"Stem Cell Rep."},{"key":"B10","doi-asserted-by":"publisher","first-page":"178","DOI":"10.1186\/1750-1172-8-178","article-title":"Abnormal centrosome and spindle morphology in a patient with autosomal recessive primary microcephaly type 2 due to compound heterozygous WDR62 gene mutation","volume":"8","author":"Farag","year":"2013","journal-title":"Orphanet J Rare Dis"},{"key":"B11","doi-asserted-by":"publisher","first-page":"2161","DOI":"10.1002\/ajmg.a.36611","article-title":"Severe presentation of WDR62 mutation: Is there a role for modifying genetic factors?","volume":"164","author":"Poulton","year":"2014","journal-title":"Am J Med Genet Part A"},{"key":"B12","article-title":"Handbook of Physical Measurements, 2nd ed","author":"Hall","year":"2007"},{"key":"B13","doi-asserted-by":"publisher","first-page":"2071","DOI":"10.1002\/ajmg.a.34165","article-title":"Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria","volume":"155","author":"Murdock","year":"2011","journal-title":"Am J Med Genet A"},{"key":"B14","doi-asserted-by":"publisher","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":"B15","doi-asserted-by":"publisher","first-page":"547986","DOI":"10.1155\/2014\/547986","article-title":"Molecular and cellular basis of autosomal recessive primary microcephaly","volume":"2014","author":"Barbelanne","year":"2014","journal-title":"Biomed Res Int"},{"key":"B16","doi-asserted-by":"publisher","first-page":"532","DOI":"10.1111\/j.1399-0004.2011.01686.x","article-title":"Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations","volume":"80","author":"Bhat","year":"2011","journal-title":"Clin Genet"},{"key":"B17","doi-asserted-by":"publisher","first-page":"118","DOI":"10.1186\/s12881-018-0625-6","article-title":"A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report","volume":"19","author":"Cherkaoui Jaouad","year":"2018","journal-title":"BMC Med Genet"},{"key":"B18","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.mgene.2016.02.005","article-title":"Molecular evolution of WDR62, a gene that regulates neocorticogenesis","volume":"9","author":"Pervaiz","year":"2016","journal-title":"Meta Gene"},{"key":"B19","doi-asserted-by":"publisher","first-page":"622","DOI":"10.1002\/ajmg.a.34417","article-title":"WDR62 missense mutation in a consanguineous family with primary microcephaly","volume":"158","author":"Bacino","year":"2012","journal-title":"Am J Med Genet Part A"},{"key":"B20","doi-asserted-by":"publisher","first-page":"1015","DOI":"10.1038\/ng.683","article-title":"Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture","volume":"42","author":"Yu","year":"2010","journal-title":"Nat Genet"},{"key":"B21","doi-asserted-by":"publisher","first-page":"732","DOI":"10.1111\/dmcn.12425","article-title":"Diagnostic approach to microcephaly in childhood: a two-center study and review of the literature","volume":"56","author":"Von der Hagen","year":"2014","journal-title":"Dev Med Child Neurol"},{"key":"B22","doi-asserted-by":"publisher","first-page":"962","DOI":"10.1212\/WNL.0b013e3181b8799a","article-title":"Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations","volume":"73","author":"Passemard","year":"2009","journal-title":"Neurology"},{"key":"B23","doi-asserted-by":"publisher","first-page":"717","DOI":"10.1086\/429930","article-title":"Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings","volume":"76","author":"Woods","year":"2005","journal-title":"Am J Hum Genet"},{"key":"B24","doi-asserted-by":"publisher","first-page":"363","DOI":"10.1016\/j.pneurobio.2009.11.002","article-title":"Many roads lead to primary autosomal recessive microcephaly","volume":"90","author":"Kaindl","year":"2010","journal-title":"Prog Neurobiol"},{"key":"B25","doi-asserted-by":"publisher","first-page":"207","DOI":"10.1038\/nature09327","article-title":"Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations","volume":"467","author":"Bilg\u00fcvar","year":"2010","journal-title":"Nature"},{"key":"B26","doi-asserted-by":"publisher","first-page":"22","DOI":"10.1186\/1471-2377-14-22","article-title":"The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome","volume":"14","author":"McDonell","year":"2014","journal-title":"BMC Neurol"},{"key":"B27","doi-asserted-by":"publisher","first-page":"1010","DOI":"10.1038\/ng.682","article-title":"WDR62 is associated with the spindle pole and is mutated in human microcephaly","volume":"42","author":"Nicholas","year":"2010","journal-title":"Nat Genet"},{"key":"B28","doi-asserted-by":"publisher","first-page":"135","DOI":"10.1111\/cga.12144","article-title":"Novel splice-site mutation in WDR62 revealed by whole-exome sequencing in a Sudanese family with primary microcephaly","volume":"56","author":"Bastaki","year":"2016","journal-title":"Congenit Anom"}],"container-title":["Frontiers in Pediatrics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fped.2019.00457\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,11,7]],"date-time":"2019-11-07T04:57:55Z","timestamp":1573102675000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fped.2019.00457\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,11,7]]},"references-count":28,"alternative-id":["10.3389\/fped.2019.00457"],"URL":"https:\/\/doi.org\/10.3389\/fped.2019.00457","relation":{},"ISSN":["2296-2360"],"issn-type":[{"value":"2296-2360","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,11,7]]},"article-number":"457"}}