{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T00:23:38Z","timestamp":1791332618495,"version":"4.3.1"},"reference-count":32,"publisher":"Hindawi Limited","issue":"8","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100013367","name":"Fondation Jean-Louis L\u00e9vesque","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100013367","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Fondation du Grand D\u00e9fi Pierre Lavoie"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2016,8]]},"DOI":"10.1002\/humu.23004","type":"journal-article","created":{"date-parts":[[2016,4,27]],"date-time":"2016-04-27T17:23:30Z","timestamp":1461777810000},"page":"786-793","source":"Crossref","is-referenced-by-count":48,"title":["Gain-of-Function Mutations in<i>RARB<\/i>Cause Intellectual Disability with Progressive Motor Impairment"],"prefix":"10.1155","volume":"37","author":[{"given":"Myriam","family":"Srour","sequence":"first","affiliation":[{"name":"CHU Sainte-Justine Research Center; Montr\u00e9al H3T 1C5 Canada"},{"name":"Department of Pediatrics; Neurology and Neurosurgery; McGill University; Montreal H3A 1A4 Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V\u00e9ronique","family":"Caron","sequence":"additional","affiliation":[{"name":"CHU Sainte-Justine Research Center; Montr\u00e9al H3T 1C5 Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toni","family":"Pearson","sequence":"additional","affiliation":[{"name":"Department of Neurology; Icahn School of Medicine at Mount Sinai; New York New York 10029"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah B.","family":"Nielsen","sequence":"additional","affiliation":[{"name":"Verona Pediatrics; Verona New Jersey 07044"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S\u00e9bastien","family":"L\u00e9vesque","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics; Department of Pediatrics; Centre Hospitalier Universitaire de Sherbrooke; Sherbrooke J1H 5N4 Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Ange","family":"Delrue","sequence":"additional","affiliation":[{"name":"Department of Pediatrics; Universit\u00e9 de Montr\u00e9al; Montreal H3T 1J4 Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Troy A.","family":"Becker","sequence":"additional","affiliation":[{"name":"Division of Genetics and Metabolism; All Children's Hospital; St-Petersburg Florida 33701"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fadi F.","family":"Hamdan","sequence":"additional","affiliation":[{"name":"CHU Sainte-Justine Research Center; Montr\u00e9al H3T 1C5 Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zoha","family":"Kibar","sequence":"additional","affiliation":[{"name":"CHU Sainte-Justine Research Center; Montr\u00e9al H3T 1C5 Canada"},{"name":"Department of Neurosciences; Universit\u00e9 de Montr\u00e9al; Montreal H3T 1J4 Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shannon G.","family":"Sattler","sequence":"additional","affiliation":[{"name":"Carle Physician Group; Urbana Illinois 61802"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael C.","family":"Schneider","sequence":"additional","affiliation":[{"name":"Carle Physician Group; Urbana Illinois 61802"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Bitoun","sequence":"additional","affiliation":[{"name":"G\u00e9n\u00e9tique M\u00e9dicale; H\u00f4pital Jean Verdier AP-HP; C.H.U. Paris Nord Bondy 93140 France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"Chassaing","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale; H\u00f4pital Purpan; CHU Toulouse Toulouse 31059 France"},{"name":"Universit\u00e9 Paul-Sabatier; Toulouse III, EA-4555 and Inserm U1056 Toulouse 31000 France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill A.","family":"Rosenfeld","sequence":"additional","affiliation":[{"name":"Baylor College of Medicine; Houston Texas 77030"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fan","family":"Xia","sequence":"additional","affiliation":[{"name":"Baylor College of Medicine; Houston Texas 77030"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonal","family":"Desai","sequence":"additional","affiliation":[{"name":"Department of Neurogenetics; Kennedy Krieger Institute; Baltimore Maryland 21205"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Roeder","sequence":"additional","affiliation":[{"name":"Children's Hospital of San Antonio San Antonio; Texas 78207"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginia","family":"Kimonis","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomic Medicine; Univerity of California-Irvine Medical Center; Orange California 92868"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adele","family":"Schneider","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomic Medicine; Univerity of California-Irvine Medical Center; Orange California 92868"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca Okashah","family":"Littlejohn","sequence":"additional","affiliation":[{"name":"Children's Hospital of San Antonio San Antonio; Texas 78207"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sofia","family":"Douzgou","sequence":"additional","affiliation":[{"name":"Manchester Centre for Genomic Medicine; Central Manchester University Hospitals NHS Foundation Trust; MAHSC; Saint Mary's Hospital; Manchester M13 9WL UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9","family":"Tremblay","sequence":"additional","affiliation":[{"name":"CHU Sainte-Justine Research Center; Montr\u00e9al H3T 1C5 Canada"},{"name":"Department of Obstetrics and Gynecology; Universit\u00e9 de Montr\u00e9al; Montreal H3T 1J4 Canada"},{"name":"Department of Biochemistry and Molecular Medicine; Universit\u00e9 de Montr\u00e9al; Montreal H3T 1J4 Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacques L.","family":"Michaud","sequence":"additional","affiliation":[{"name":"CHU Sainte-Justine Research Center; Montr\u00e9al H3T 1C5 Canada"},{"name":"Department of Pediatrics; Universit\u00e9 de Montr\u00e9al; Montreal H3T 1J4 Canada"},{"name":"Department of Neurosciences; Universit\u00e9 de Montr\u00e9al; Montreal H3T 1J4 Canada"},{"name":"Department of Biochemistry and Molecular Medicine; Universit\u00e9 de Montr\u00e9al; Montreal H3T 1J4 Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"98","published-online":{"date-parts":[[2016,5,9]]},"reference":[{"key":"10.1002\/humu.23004-BIB0001|humu23004-cit-0001","doi-asserted-by":"crossref","first-page":"622","DOI":"10.1016\/0012-1606(92)90200-Z","article-title":"Transgenic mice expressing a constitutively active retinoic acid receptor in the lens exhibit ocular defects","volume":"151","author":"Balkan","year":"1992","journal-title":"Dev Biol"},{"key":"10.1002\/humu.23004-BIB0002|humu23004-cit-0002","doi-asserted-by":"crossref","first-page":"e1000609","DOI":"10.1371\/journal.pbio.1000609","article-title":"Retinoic acid functions as a key GABAergic differentiation signal in the basal ganglia","volume":"9","author":"Chatzi","year":"2011","journal-title":"PLoS Biol"},{"key":"10.1002\/humu.23004-BIB0003|humu23004-cit-0003","doi-asserted-by":"crossref","first-page":"1353","DOI":"10.1016\/S0896-6273(00)80654-6","article-title":"An essential role for retinoid receptors RARbeta and RXRgamma in long-term potentiation and depression","volume":"21","author":"Chiang","year":"1998","journal-title":"Neuron"},{"key":"10.1002\/humu.23004-BIB0004|humu23004-cit-0004","doi-asserted-by":"crossref","first-page":"59","DOI":"10.3389\/fnana.2011.00059","article-title":"Basal Ganglia disorders associated with imbalances in the striatal striosome and matrix compartments","volume":"5","author":"Crittenden","year":"2011","journal-title":"Front Neuroanat"},{"key":"10.1002\/humu.23004-BIB0005|humu23004-cit-0005","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1038\/nrm3932","article-title":"Mechanisms of retinoic acid signalling and its roles in organ and limb development","volume":"16","author":"Cunningham","year":"2015","journal-title":"Nat Rev Mol Cell Biol"},{"key":"10.1002\/humu.23004-BIB0006|humu23004-cit-0006","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1016\/j.ejmg.2014.02.009","article-title":"Novel de novo SPOCK1 mutation in a proband with developmental delay, microcephaly and agenesis of corpus callosum","volume":"57","author":"Dhamija","year":"2014","journal-title":"Eur J Med Genet"},{"key":"10.1002\/humu.23004-BIB0007|humu23004-cit-0007","doi-asserted-by":"crossref","first-page":"877","DOI":"10.1038\/sj.embor.7400235","article-title":"Rational design of RAR-selective ligands revealed by RARbeta crystal stucture","volume":"5","author":"Germain","year":"2004","journal-title":"EMBO Rep"},{"key":"10.1002\/humu.23004-BIB0008|humu23004-cit-0008","doi-asserted-by":"crossref","first-page":"1352","DOI":"10.1097\/PRS.0b013e3181d62980","article-title":"Retinoic acid enhances osteogenesis in cranial suture-derived mesenchymal cells: potential mechanisms of retinoid-induced craniosynostosis","volume":"125","author":"James","year":"2010","journal-title":"Plast Reconstr Surg"},{"key":"10.1002\/humu.23004-BIB0009|humu23004-cit-0009","doi-asserted-by":"crossref","first-page":"603","DOI":"10.1016\/j.neuron.2006.01.023","article-title":"Transient and selective overexpression of dopamine D2 receptors in the striatum causes persistent abnormalities in prefrontal cortex functioning","volume":"49","author":"Kellendonk","year":"2006","journal-title":"Neuron"},{"key":"10.1002\/humu.23004-BIB0010|humu23004-cit-0010","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1126\/science.279.5352.863","article-title":"Impaired locomotion and dopamine signaling in retinoid receptor mutant mice","volume":"279","author":"Krezel","year":"1998","journal-title":"Science"},{"key":"10.1002\/humu.23004-BIB0011|humu23004-cit-0011","doi-asserted-by":"crossref","first-page":"1291","DOI":"10.1016\/S0306-4522(98)00342-X","article-title":"Differential expression of retinoid receptors in the adult mouse central nervous system","volume":"89","author":"Krezel","year":"1999","journal-title":"Neuroscience"},{"key":"10.1002\/humu.23004-BIB0012|humu23004-cit-0012","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1016\/j.ajhg.2011.09.015","article-title":"Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid","volume":"89","author":"Laue","year":"2011","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.23004-BIB0013|humu23004-cit-0013","doi-asserted-by":"crossref","first-page":"13668","DOI":"10.1073\/pnas.1200872109","article-title":"A paradoxical teratogenic mechanism for retinoic acid","volume":"109","author":"Lee","year":"2012","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1002\/humu.23004-BIB0014|humu23004-cit-0014","doi-asserted-by":"crossref","first-page":"6765","DOI":"10.1073\/pnas.0802109105","article-title":"Modular patterning of structure and function of the striatum by retinoid receptor signaling","volume":"105","author":"Liao","year":"2008","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1002\/humu.23004-BIB0015|humu23004-cit-0015","doi-asserted-by":"crossref","first-page":"584","DOI":"10.1002\/dvdy.20344","article-title":"Differential expression of RARbeta isoforms in the mouse striatum during development: a gradient of RARbeta2 expression along the rostrocaudal axis","volume":"233","author":"Liao","year":"2005","journal-title":"Dev Dyn"},{"key":"10.1002\/humu.23004-BIB0016|humu23004-cit-0016","doi-asserted-by":"crossref","first-page":"732","DOI":"10.1002\/dvdy.21878","article-title":"Genetic disruption of CYP26B1 severely affects development of neural crest derived head structures, but does not compromise hindbrain patterning","volume":"238","author":"Maclean","year":"2009","journal-title":"Dev Dyn"},{"key":"10.1002\/humu.23004-BIB0017|humu23004-cit-0017","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1016\/0022-510X(81)90040-X","article-title":"Morphogenesis of experimentally induced Arnold-Chiari malformation","volume":"50","author":"Marin-Padilla","year":"1981","journal-title":"J Neurol Sci"},{"key":"10.1002\/humu.23004-BIB0018|humu23004-cit-0018","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1016\/j.ydbio.2006.11.035","article-title":"Role of retinoic acid during forebrain development begins late when Raldh3 generates retinoic acid in the ventral subventricular zone","volume":"303","author":"Molotkova","year":"2007","journal-title":"Dev Biol"},{"key":"10.1002\/humu.23004-BIB0019|humu23004-cit-0019","doi-asserted-by":"crossref","first-page":"1721","DOI":"10.1002\/humu.22450","article-title":"A post-hoc comparison of the utility of Sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases","volume":"34","author":"Neveling","year":"2013","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.23004-BIB0020|humu23004-cit-0020","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1016\/S0021-5155(97)00134-2","article-title":"Developmental eye abnormalities in mouse fetuses induced by retinoic acid","volume":"42","author":"Ozeki","year":"1998","journal-title":"Jpn J Ophthalmol"},{"key":"10.1002\/humu.23004-BIB0021|humu23004-cit-0021","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1006\/exer.1998.0591","article-title":"Critical period for retinoic acid-induced developmental abnormalities of the vitreous in mouse fetuses","volume":"68","author":"Ozeki","year":"1999","journal-title":"Exp Eye Res"},{"key":"10.1002\/humu.23004-BIB0022|humu23004-cit-0022","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1159\/000145439","article-title":"Malformations of the eye resulting from maternal hypervitaminosis A during gestation in the rat","volume":"110","author":"Padmanabhan","year":"1981","journal-title":"Acta Anat (Basel)"},{"key":"10.1002\/humu.23004-BIB0023|humu23004-cit-0023","doi-asserted-by":"crossref","first-page":"14467","DOI":"10.1523\/JNEUROSCI.1278-15.2015","article-title":"Retinoic acid receptor beta controls development of striatonigral projection neurons through FGF-dependent and Meis1-dependent mechanisms","volume":"35","author":"Rataj-Baniowska","year":"2015","journal-title":"J Neurosci"},{"key":"10.1002\/humu.23004-BIB0024|humu23004-cit-0024","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1038\/378681a0","article-title":"Crystal structure of the RAR-gamma ligand-binding domain bound to all-trans retinoic acid","volume":"378","author":"Renaud","year":"1995","journal-title":"Nature"},{"key":"10.1002\/humu.23004-BIB0025|humu23004-cit-0025","doi-asserted-by":"crossref","first-page":"1021","DOI":"10.1152\/physrev.2000.80.3.1021","article-title":"Retinoids in embryonal development","volume":"80","author":"Ross","year":"2000","journal-title":"Physiol Rev"},{"key":"10.1002\/humu.23004-BIB0026|humu23004-cit-0026","doi-asserted-by":"crossref","first-page":"14349","DOI":"10.1073\/pnas.94.26.14349","article-title":"Regulation of dopaminergic pathways by retinoids: activation of the D2 receptor promoter by members of the retinoic acid receptor-retinoid X receptor family","volume":"94","author":"Samad","year":"1997","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1002\/humu.23004-BIB0027|humu23004-cit-0027","first-page":"466","article-title":"Exome sequencing in 32 patients with anophthalmia\/microphthalmia and developmental eye defects","volume":"88","author":"Slavotinek","year":"2014","journal-title":"Clin Genet"},{"key":"10.1002\/humu.23004-BIB0028|humu23004-cit-0028","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1016\/j.ajhg.2013.08.014","article-title":"Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia","volume":"93","author":"Srour","year":"2013","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.23004-BIB0029|humu23004-cit-0029","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1002\/tera.1420510605","article-title":"Teratogenicity of low doses of all-trans retinoic acid in presomite mouse embryos","volume":"51","author":"Sulik","year":"1995","journal-title":"Teratology"},{"key":"10.1002\/humu.23004-BIB0030|humu23004-cit-0030","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1186\/1755-8794-7-22","article-title":"PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes","volume":"7","author":"Trakadis","year":"2014","journal-title":"BMC Med Genomics"},{"key":"10.1002\/humu.23004-BIB0031|humu23004-cit-0031","doi-asserted-by":"crossref","first-page":"e57241","DOI":"10.1371\/journal.pone.0057241","article-title":"Chiari malformation type I: a case-control association study of 58 developmental genes","volume":"8","author":"Urbizu","year":"2013","journal-title":"PLoS One"},{"key":"10.1002\/humu.23004-BIB0032|humu23004-cit-0032","doi-asserted-by":"crossref","first-page":"1502","DOI":"10.1056\/NEJMoa1306555","article-title":"Clinical whole-exome sequencing for the diagnosis of mendelian disorders","volume":"369","author":"Yang","year":"2013","journal-title":"N Engl J Med"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.23004","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/humu.23004","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:54:25Z","timestamp":1672332865000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.23004"}},"subtitle":["HUMAN MUTATION"],"short-title":[],"issued":{"date-parts":[[2016,5,9]]},"references-count":32,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2016,8]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.23004","archive":["Portico"],"relation":{},"ISSN":["1059-7794"],"issn-type":[{"value":"1059-7794","type":"print"}],"subject":[],"published":{"date-parts":[[2016,5,9]]}}}