{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,29]],"date-time":"2025-12-29T13:44:59Z","timestamp":1767015899614},"reference-count":31,"publisher":"Informa UK Limited","license":[{"start":{"date-parts":[[2021,7,1]],"date-time":"2021-07-01T00:00:00Z","timestamp":1625097600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IMCRJ"],"DOI":"10.2147\/imcrj.s321961","type":"journal-article","created":{"date-parts":[[2021,7,7]],"date-time":"2021-07-07T22:34:42Z","timestamp":1625697282000},"page":"459-463","source":"Crossref","is-referenced-by-count":2,"title":["Retinitis Pigmentosa and Polydactyly in a Patient with a Heterozygous Mutation on the BBS1 Gene"],"prefix":"10.2147","volume":"Volume 14","author":[{"given":"Gabriel","family":"Guardiola","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fabiola","family":"Ramos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natalio","family":"Izquierdo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"301","published-online":{"date-parts":[[2021,7]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"171","DOI":"10.1007\/978-3-319-95046-4_33","volume":"1085","author":"Tsang","year":"2018","journal-title":"Adv Exp Med Biol"},{"key":"ref2","doi-asserted-by":"publisher","first-page":"163","DOI":"10.1080\/13816810701537440","volume":"28","author":"Kim","year":"2007","journal-title":"Ophthalmic Genet"},{"key":"ref3","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1001\/archopht.1982.01030030287011","volume":"100","author":"Schachat","year":"1982","journal-title":"Arch Ophthalmol"},{"key":"ref4","doi-asserted-by":"publisher","first-page":"23","DOI":"10.3389\/fped.2018.00023","volume":"6","author":"Forsythe","year":"2018","journal-title":"Front Pediatr"},{"key":"ref5","doi-asserted-by":"publisher","first-page":"621","DOI":"10.1080\/13816810.2020.1810282","volume":"41","author":"Torrefranca","year":"2020","journal-title":"Ophthalmic Genet"},{"key":"ref6","author":"Forsyth","year":"2020","journal-title":"GeneReviews \u00ae [Internet]"},{"key":"ref7","doi-asserted-by":"publisher","first-page":"2068","DOI":"10.1002\/humu.23862","volume":"40","author":"Niederlova","year":"2019","journal-title":"Hum Mutat"},{"key":"ref8","doi-asserted-by":"publisher","first-page":"901","DOI":"10.1001\/archophthalmol.2012.89","volume":"130","author":"Daniels","year":"2012","journal-title":"Arch Ophthalmol"},{"key":"ref9","doi-asserted-by":"publisher","first-page":"e0136317","DOI":"10.1371\/journal.pone.0136317","volume":"10","author":"Hirano","year":"2015","journal-title":"PLoS One"},{"key":"ref10","doi-asserted-by":"publisher","first-page":"2256","DOI":"10.1126\/science.1063525","volume":"293","author":"Katsanis","year":"2001","journal-title":"Science"},{"key":"ref11","doi-asserted-by":"publisher","first-page":"1651","DOI":"10.1093\/hmg\/ddg188","volume":"12","author":"Bandano","year":"2003","journal-title":"Hum Mol Genet"},{"key":"ref12","doi-asserted-by":"publisher","first-page":"1187","DOI":"10.1086\/375178","volume":"72","author":"Beales","year":"2003","journal-title":"Am J Hum Genet"},{"key":"ref13","doi-asserted-by":"publisher","first-page":"R65","DOI":"10.1093\/hmg\/ddh092","volume":"13","author":"Katsanis","year":"2004","journal-title":"Hum Mol Genet"},{"key":"ref14","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1038\/ejhg.2012.115","volume":"21","author":"Forsythe","year":"2013","journal-title":"Eur J Hum Genet"},{"key":"ref15","doi-asserted-by":"publisher","first-page":"62","DOI":"10.1159\/000445491","volume":"7","author":"Suspitsin","year":"2016","journal-title":"Mol Syndromol"},{"key":"ref16","doi-asserted-by":"publisher","first-page":"847","DOI":"10.1038\/s10038-020-0778-y","volume":"65","author":"Hirano","year":"2020","journal-title":"J Hum Genet"},{"key":"ref17","doi-asserted-by":"publisher","first-page":"104","DOI":"10.1136\/jmg.40.8.e104","volume":"40","author":"Fauser","year":"2003","journal-title":"J Med Genet"},{"key":"ref18","doi-asserted-by":"publisher","first-page":"215","DOI":"10.1038\/ki.2009.116","volume":"76","author":"Webb","year":"2009","journal-title":"Kidney Int"},{"key":"ref19","doi-asserted-by":"publisher","first-page":"37","DOI":"10.1002\/ajmg.1320360109","volume":"36","author":"Croft","year":"1990","journal-title":"Am J Med Genet"},{"key":"ref20","doi-asserted-by":"publisher","first-page":"1977","DOI":"10.1093\/ndt\/15.12.1977","volume":"15","author":"Beales","year":"2000","journal-title":"Nephrol Dial Transplant"},{"key":"ref21","doi-asserted-by":"publisher","first-page":"1699","DOI":"10.1002\/ajmg.a.31805","volume":"143","author":"Hjortsh\u00f8j","year":"2007","journal-title":"Am J Med Genet A"},{"key":"ref22","doi-asserted-by":"publisher","first-page":"429","DOI":"10.1086\/346172","volume":"72","author":"Mykytyn","year":"2003","journal-title":"Am J Hum Genet"},{"key":"ref23","unstructured":"VCV000860468.2 - ClinVar - NCBI. https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/variation\/860468\/. Accessed April 13, 2021."},{"key":"ref24","doi-asserted-by":"publisher","first-page":"361","DOI":"10.1038\/nmeth.2890","volume":"11","author":"Schwarz","year":"2014","journal-title":"Nat Methods"},{"key":"ref25","doi-asserted-by":"publisher","first-page":"919","DOI":"10.1093\/hmg\/7.5.919","volume":"7","author":"Zhang","year":"1998","journal-title":"Hum Mol Genet"},{"key":"ref26","doi-asserted-by":"publisher","first-page":"4250","DOI":"10.1093\/nar\/gkm402","volume":"35","author":"Buratti","year":"2007","journal-title":"Nucleic Acids Res"},{"key":"ref27","doi-asserted-by":"publisher","first-page":"e140","DOI":"10.1093\/nar\/gkx557","volume":"45","author":"Gazzo","year":"2017","journal-title":"Nucleic Acids Res"},{"key":"ref28","doi-asserted-by":"publisher","first-page":"242","DOI":"10.1186\/s13059-016-1099-5","volume":"17","author":"Shaheen","year":"2016","journal-title":"Genome Biol"},{"key":"ref29","doi-asserted-by":"publisher","first-page":"503","DOI":"10.1136\/jmedgenet-2015-103099","volume":"52","author":"Castro-S\u00e1nchez","year":"2015","journal-title":"J Med Genet"},{"key":"ref30","doi-asserted-by":"publisher","first-page":"3736","DOI":"10.1167\/iovs.05-1637","volume":"47","author":"Yzer","year":"2006","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"ref31","doi-asserted-by":"publisher","first-page":"1425","DOI":"10.1001\/archophthalmol.2012.2434","volume":"130","author":"Estrada-Cuzcano","year":"2012","journal-title":"Arch Ophthalmol"}],"container-title":["International Medical Case Reports Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.dovepress.com\/getfile.php?fileID=71357","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.dovepress.com\/getfile.php?fileID=71357","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,7,7]],"date-time":"2021-07-07T22:34:46Z","timestamp":1625697286000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.dovepress.com\/retinitis-pigmentosa-and-polydactyly-in-a-patient-with-a-heterozygous--peer-reviewed-fulltext-article-IMCRJ"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,7]]},"references-count":31,"URL":"https:\/\/doi.org\/10.2147\/imcrj.s321961","relation":{},"ISSN":["1179-142X"],"issn-type":[{"value":"1179-142X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,7]]}}}