{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T01:53:04Z","timestamp":1790819584608,"version":"4.1.0"},"reference-count":20,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2017,1,4]],"date-time":"2017-01-04T00:00:00Z","timestamp":1483488000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Intramural Research Program of the National Human Genome Research Institute"},{"DOI":"10.13039\/100000093","name":"Center for Information Technology, National Institutes of Health","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100000093","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,3]]},"abstract":"<jats:sec><jats:label\/><jats:p>Joubert syndrome is a ciliopathy characterized by a specific constellation of central nervous system malformations that result in the pathognomonic \u201cmolar tooth sign\u201d on imaging. More than 27 genes are associated with Joubert syndrome, but some patients do not have mutations in any of these genes. Celsr1, Celsr2, and Celsr3 are the mammalian orthologues of the drosophila planar cell polarity protein, flamingo; they play important roles in neural development, including axon guidance, neuronal migration, and cilium polarity. Here, we report bi\u2010allelic mutations in <jats:italic>CELSR2<\/jats:italic> in a Joubert patient with cortical heterotopia, microophthalmia, and growth hormone deficiency. \u00a9 2017 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38005","type":"journal-article","created":{"date-parts":[[2017,1,4]],"date-time":"2017-01-04T06:36:42Z","timestamp":1483511802000},"page":"661-666","source":"Crossref","is-referenced-by-count":40,"title":["<i>CELSR2<\/i>, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency"],"prefix":"10.1002","volume":"173","author":[{"given":"Thierry","family":"Vilboux","sequence":"first","affiliation":[{"name":"Section of Human Biochemical Genetics Medical Genetics Branch National Human Genome Research Institute National Institutes of Health Bethesda Maryland"},{"name":"Inova Translational Medicine Institute Falls Church Virginia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"May Christine V.","family":"Malicdan","sequence":"additional","affiliation":[{"name":"Section of Human Biochemical Genetics Medical Genetics Branch National Human Genome Research Institute National Institutes of Health Bethesda Maryland"},{"name":"NIH Undiagnosed Diseases Program Common Fund Office of the Director National Institutes of Health Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph C.","family":"Roney","sequence":"additional","affiliation":[{"name":"Section of Human Biochemical Genetics Medical Genetics Branch National Human Genome Research Institute National Institutes of Health Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew R.","family":"Cullinane","sequence":"additional","affiliation":[{"name":"Section of Human Biochemical Genetics Medical Genetics Branch National Human Genome Research Institute National Institutes of Health Bethesda Maryland"},{"name":"Department of Anatomy Howard University College of Medicine Washington DC"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joshi","family":"Stephen","sequence":"additional","affiliation":[{"name":"Section of Human Biochemical Genetics Medical Genetics Branch National Human Genome Research Institute National Institutes of Health Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deniz","family":"Yildirimli","sequence":"additional","affiliation":[{"name":"Section of Human Biochemical Genetics Medical Genetics Branch National Human Genome Research Institute National Institutes of Health Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joy","family":"Bryant","sequence":"additional","affiliation":[{"name":"Section of Human Biochemical Genetics Medical Genetics Branch National Human Genome Research Institute National Institutes of Health Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roxanne","family":"Fischer","sequence":"additional","affiliation":[{"name":"Section of Human Biochemical Genetics Medical Genetics Branch National Human Genome Research Institute National Institutes of Health Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meghana","family":"Vemulapalli","sequence":"additional","affiliation":[{"name":"NIH Intramural Sequencing Center (NISC) National Human Genome Research Institute National Institutes of Health Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James C.","family":"Mullikin","sequence":"additional","affiliation":[{"name":"NIH Intramural Sequencing Center (NISC) National Human Genome Research Institute National Institutes of Health Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"NISC Comparative Sequencing Program","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter J.","family":"Steinbach","sequence":"additional","affiliation":[{"name":"Center for Molecular Modeling Center for Information Technology National Institutes of Health Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William A.","family":"Gahl","sequence":"additional","affiliation":[{"name":"Section of Human Biochemical Genetics Medical Genetics Branch National Human Genome Research Institute National Institutes of Health Bethesda Maryland"},{"name":"NIH Undiagnosed Diseases Program Common Fund Office of the Director National Institutes of Health Bethesda Maryland"},{"name":"Office of the Clinical Director National Human Genome Research Institute National Institutes of Health Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meral","family":"Gunay\u2010Aygun","sequence":"additional","affiliation":[{"name":"Section of Human Biochemical Genetics Medical Genetics Branch National Human Genome Research Institute National Institutes of Health Bethesda Maryland"},{"name":"Office of the Clinical Director National Human Genome Research Institute National Institutes of Health Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,1,4]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/emboj.2012.26"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.genom.7.080505.115610"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature07517"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1242\/dmm.006262"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn356"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0925-4773(01)00515-9"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/nbt.1523"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2015.10.065"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.str.2010.11.016"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31336"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1107\/S0021889891004399"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0076-6879(97)77028-9"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.12.009"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2011.09.014"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.0686-15.2015"},{"key":"e_1_2_7_17_1","volume-title":"Joubert syndrome and related disorders","author":"Parisi M","year":"2003"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1644"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btr711"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq333"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/nn.2555"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.38005","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38005","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T06:24:32Z","timestamp":1695536672000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.38005"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,1,4]]},"references-count":20,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2017,3]]}},"alternative-id":["10.1002\/ajmg.a.38005"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.38005","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,1,4]]}}}