{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T18:08:14Z","timestamp":1772993294572,"version":"3.50.1"},"reference-count":13,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2019,4,1]],"date-time":"2019-04-01T00:00:00Z","timestamp":1554076800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100004761","name":"The Natural Science Foundation of Hunan Province","doi-asserted-by":"crossref","award":["2017JJ3142"],"award-info":[{"award-number":["2017JJ3142"]}],"id":[{"id":"10.13039\/501100004761","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Clinica Chimica Acta"],"published-print":{"date-parts":[[2019,4]]},"DOI":"10.1016\/j.cca.2019.01.007","type":"journal-article","created":{"date-parts":[[2019,1,10]],"date-time":"2019-01-10T11:39:39Z","timestamp":1547120379000},"page":"15-18","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":12,"special_numbering":"C","title":["Novel SASS6 compound heterozygous mutations in a Chinese family with primary autosomal recessive microcephaly"],"prefix":"10.1016","volume":"491","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4213-7403","authenticated-orcid":false,"given":"Yanghui","family":"Zhang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haoxian","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jialun","family":"Pang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ying","family":"Peng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li","family":"Shu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0217-8358","authenticated-orcid":false,"given":"Hua","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.cca.2019.01.007_bb0005","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1016\/j.semcdb.2017.09.015","article-title":"The genetics of congenitally small brains","volume":"76","author":"Duerinckx","year":"2018","journal-title":"Semin. Cell Dev. Biol."},{"issue":"2014","key":"10.1016\/j.cca.2019.01.007_bb0010","first-page":"547986","article-title":"Molecular and cellular basis of autosomal recessive primary microcephaly","author":"Barbelanne","year":"2014","journal-title":"Biomed. Res. Int."},{"issue":"5","key":"10.1016\/j.cca.2019.01.007_bb0015","doi-asserted-by":"crossref","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."},{"issue":"5","key":"10.1016\/j.cca.2019.01.007_bb0020","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1111\/j.1399-0004.2012.01932.x","article-title":"Genetic heterogeneity in Pakistani microcephaly families","volume":"83","author":"Sajid Hussain","year":"2013","journal-title":"Clin. Genet."},{"key":"10.1016\/j.cca.2019.01.007_bb0025","doi-asserted-by":"crossref","first-page":"e7","DOI":"10.1017\/S0016672318000046","article-title":"Comprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH)","volume":"100","author":"Naveed","year":"2018","journal-title":"Genet. Res. (Camb.)"},{"issue":"12","key":"10.1016\/j.cca.2019.01.007_bb0030","doi-asserted-by":"crossref","DOI":"10.1101\/cshperspect.a025049","article-title":"The centrosome, a multitalented renaissance organelle","volume":"8","author":"Vertii","year":"2016","journal-title":"Cold Spring Harb. Perspect. Biol."},{"issue":"2","key":"10.1016\/j.cca.2019.01.007_bb0035","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1016\/j.devcel.2007.07.004","article-title":"Regulated HsSAS-6 levels ensure formation of a single procentriole per centriole during the centrosome duplication cycle","volume":"13","author":"Strnad","year":"2007","journal-title":"Dev. Cell"},{"issue":"22","key":"10.1016\/j.cca.2019.01.007_bb0040","doi-asserted-by":"crossref","first-page":"5940","DOI":"10.1093\/hmg\/ddu318","article-title":"A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family","volume":"23","author":"Khan","year":"2014","journal-title":"Hum. Mol. Genet."},{"issue":"5","key":"10.1016\/j.cca.2019.01.007_bb0045","doi-asserted-by":"crossref","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."},{"issue":"3","key":"10.1016\/j.cca.2019.01.007_bb0050","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1091\/mbc.E17-03-0192","article-title":"Same but different: pleiotropy in centrosome-related microcephaly","volume":"29","author":"O'Neill","year":"2018","journal-title":"Mol. Biol. Cell"},{"issue":"6021","key":"10.1016\/j.cca.2019.01.007_bb0055","doi-asserted-by":"crossref","first-page":"1196","DOI":"10.1126\/science.1199325","article-title":"Structures of SAS-6 suggest its organization in centrioles","volume":"331","author":"van Breugel","year":"2011","journal-title":"Science"},{"issue":"8","key":"10.1016\/j.cca.2019.01.007_bb0060","doi-asserted-by":"crossref","first-page":"1141","DOI":"10.1038\/emboj.2013.56","article-title":"Human microcephaly protein CEP135 binds to hSAS-6 and CPAP, and is required for centriole assembly","volume":"32","author":"Lin","year":"2013","journal-title":"EMBO J."},{"issue":"2","key":"10.1016\/j.cca.2019.01.007_bb0065","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1016\/j.devcel.2014.05.008","article-title":"SAS-6 assembly templated by the lumen of cartwheel-less centrioles precedes centriole duplication","volume":"30","author":"Fong","year":"2014","journal-title":"Dev. Cell"}],"container-title":["Clinica Chimica Acta"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009898119300208?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009898119300208?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,2,19]],"date-time":"2019-02-19T21:28:33Z","timestamp":1550611713000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0009898119300208"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,4]]},"references-count":13,"alternative-id":["S0009898119300208"],"URL":"https:\/\/doi.org\/10.1016\/j.cca.2019.01.007","relation":{},"ISSN":["0009-8981"],"issn-type":[{"value":"0009-8981","type":"print"}],"subject":[],"published":{"date-parts":[[2019,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Novel SASS6 compound heterozygous mutations in a Chinese family with primary autosomal recessive microcephaly","name":"articletitle","label":"Article Title"},{"value":"Clinica Chimica Acta","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.cca.2019.01.007","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2019 Published by Elsevier B.V.","name":"copyright","label":"Copyright"}]}}