{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,4]],"date-time":"2025-12-04T18:41:33Z","timestamp":1764873693382,"version":"3.37.3"},"reference-count":39,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2020,1,29]],"date-time":"2020-01-29T00:00:00Z","timestamp":1580256000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2020,1,29]],"date-time":"2020-01-29T00:00:00Z","timestamp":1580256000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Doc Ophthalmol"],"published-print":{"date-parts":[[2020,8]]},"DOI":"10.1007\/s10633-020-09752-5","type":"journal-article","created":{"date-parts":[[2020,1,29]],"date-time":"2020-01-29T12:03:14Z","timestamp":1580299394000},"page":"77-88","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Novel biallelic splice-site BBS1 variants in Bardet\u2013Biedle syndrome: a case report of the first Japanese patient"],"prefix":"10.1007","volume":"141","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7787-8194","authenticated-orcid":false,"given":"Satoshi","family":"Katagiri","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7480-6133","authenticated-orcid":false,"given":"Katsuhiro","family":"Hosono","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1535-0279","authenticated-orcid":false,"given":"Takaaki","family":"Hayashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noriyuki","family":"Murai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eiichi","family":"Wake","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ichiro","family":"Miyata","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5389-6507","authenticated-orcid":false,"given":"Kei","family":"Mizobuchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kentaro","family":"Kurata","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomokazu","family":"Matsuura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tadashi","family":"Nakano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4052-5066","authenticated-orcid":false,"given":"Yoshihiro","family":"Hotta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2020,1,29]]},"reference":[{"key":"9752_CR1","doi-asserted-by":"publisher","first-page":"615","DOI":"10.1056\/nejm198809083191005","volume":"319","author":"JD Harnett","year":"1988","unstructured":"Harnett JD, Green JS, Cramer BC, Johnson G, Chafe L, McManamon P, Farid NR, Pryse-Phillips W, Parfrey PS (1988) The spectrum of renal disease in Laurence\u2013Moon\u2013Biedl syndrome. N Engl J Med 319:615\u2013618. https:\/\/doi.org\/10.1056\/nejm198809083191005","journal-title":"N Engl J Med"},{"key":"9752_CR2","doi-asserted-by":"publisher","first-page":"1002","DOI":"10.1056\/nejm198910123211503","volume":"321","author":"JS Green","year":"1989","unstructured":"Green JS, Parfrey PS, Harnett JD, Farid NR, Cramer BC, Johnson G, Heath O, McManamon PJ, O\u2019Leary E, Pryse-Phillips W (1989) The cardinal manifestations of Bardet\u2013Biedl syndrome, a form of Laurence\u2013Moon\u2013Biedl syndrome. N Engl J Med 321:1002\u20131009. https:\/\/doi.org\/10.1056\/nejm198910123211503","journal-title":"N Engl J Med"},{"key":"9752_CR3","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1136\/jmg.36.6.437","volume":"36","author":"PL Beales","year":"1999","unstructured":"Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA (1999) New criteria for improved diagnosis of Bardet\u2013Biedl syndrome: results of a population survey. J Med Genet 36:437\u2013446","journal-title":"J Med Genet"},{"key":"9752_CR4","doi-asserted-by":"publisher","first-page":"1533","DOI":"10.1056\/NEJMra1010172","volume":"364","author":"F Hildebrandt","year":"2011","unstructured":"Hildebrandt F, Benzing T, Katsanis N (2011) Ciliopathies. N Engl J Med 364:1533\u20131543. https:\/\/doi.org\/10.1056\/NEJMra1010172","journal-title":"N Engl J Med"},{"key":"9752_CR5","doi-asserted-by":"publisher","first-page":"258","DOI":"10.1016\/j.preteyeres.2011.03.001","volume":"30","author":"A Mockel","year":"2011","unstructured":"Mockel A, Perdomo Y, Stutzmann F, Letsch J, Marion V, Dollfus H (2011) Retinal dystrophy in Bardet\u2013Biedl syndrome and related syndromic ciliopathies. Prog Retin Eye Res 30:258\u2013274. https:\/\/doi.org\/10.1016\/j.preteyeres.2011.03.001","journal-title":"Prog Retin Eye Res"},{"key":"9752_CR6","doi-asserted-by":"publisher","first-page":"1201","DOI":"10.1016\/j.cell.2007.03.053","volume":"129","author":"MV Nachury","year":"2007","unstructured":"Nachury MV, Loktev AV, Zhang Q, Westlake CJ, Peranen J, Merdes A, Slusarski DC, Scheller RH, Bazan JF, Sheffield VC, Jackson PK (2007) A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. Cell 129:1201\u20131213. https:\/\/doi.org\/10.1016\/j.cell.2007.03.053","journal-title":"Cell"},{"key":"9752_CR7","doi-asserted-by":"publisher","first-page":"854","DOI":"10.1016\/j.devcel.2008.11.001","volume":"15","author":"AV Loktev","year":"2008","unstructured":"Loktev AV, Zhang Q, Beck JS, Searby CC, Scheetz TE, Bazan JF, Slusarski DC, Sheffield VC, Jackson PK, Nachury MV (2008) A BBSome subunit links ciliogenesis, microtubule stability, and acetylation. Dev Cell 15:854\u2013865. https:\/\/doi.org\/10.1016\/j.devcel.2008.11.001","journal-title":"Dev Cell"},{"key":"9752_CR8","doi-asserted-by":"publisher","first-page":"132","DOI":"10.1136\/jmedgenet-2013-101785","volume":"51","author":"S Scheidecker","year":"2014","unstructured":"Scheidecker S, Etard C, Pierce NW, Geoffroy V, Schaefer E, Muller J, Chennen K, Flori E, Pelletier V, Poch O, Marion V, Stoetzel C, Strahle U, Nachury MV, Dollfus H (2014) Exome sequencing of Bardet\u2013Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18). J Med Genet 51:132\u2013136. https:\/\/doi.org\/10.1136\/jmedgenet-2013-101785","journal-title":"J Med Genet"},{"key":"9752_CR9","doi-asserted-by":"publisher","first-page":"435","DOI":"10.1038\/ng935","volume":"31","author":"K Mykytyn","year":"2002","unstructured":"Mykytyn K, Nishimura DY, Searby CC, Shastri M, Yen HJ, Beck JS, Braun T, Streb LM, Cornier AS, Cox GF, Fulton AB, Carmi R, Luleci G, Chandrasekharappa SC, Collins FS, Jacobson SG, Heckenlively JR, Weleber RG, Stone EM, Sheffield VC (2002) Identification of the gene (BBS1) most commonly involved in Bardet\u2013Biedl syndrome, a complex human obesity syndrome. Nat Genet 31:435\u2013438. https:\/\/doi.org\/10.1038\/ng935","journal-title":"Nat Genet"},{"key":"9752_CR10","doi-asserted-by":"publisher","first-page":"1187","DOI":"10.1086\/375178","volume":"72","author":"PL Beales","year":"2003","unstructured":"Beales PL, Badano JL, Ross AJ, Ansley SJ, Hoskins BE, Kirsten B, Mein CA, Froguel P, Scambler PJ, Lewis RA, Lupski JR, Katsanis N (2003) Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet\u2013Biedl syndrome. Am J Hum Genet 72:1187\u20131199. https:\/\/doi.org\/10.1086\/375178","journal-title":"Am J Hum Genet"},{"key":"9752_CR11","doi-asserted-by":"publisher","first-page":"901","DOI":"10.1001\/archophthalmol.2012.89","volume":"130","author":"AB Daniels","year":"2012","unstructured":"Daniels AB, Sandberg MA, Chen J, Weigel-DiFranco C, Fielding Hejtmancic J, Berson EL (2012) Genotype\u2013phenotype correlations in Bardet\u2013Biedl syndrome. Arch Ophthalmol 130:901\u2013907. https:\/\/doi.org\/10.1001\/archophthalmol.2012.89","journal-title":"Arch Ophthalmol"},{"key":"9752_CR12","doi-asserted-by":"publisher","first-page":"610","DOI":"10.1002\/humu.21480","volume":"32","author":"C Deveault","year":"2011","unstructured":"Deveault C, Billingsley G, Duncan JL, Bin J, Theal R, Vincent A, Fieggen KJ, Gerth C, Noordeh N, Traboulsi EI, Fishman GA, Chitayat D, Knueppel T, Millan JM, Munier FL, Kennedy D, Jacobson SG, Innes AM, Mitchell GA, Boycott K, Heon E (2011) BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. Hum Mutat 32:610\u2013619. https:\/\/doi.org\/10.1002\/humu.21480","journal-title":"Hum Mutat"},{"key":"9752_CR13","doi-asserted-by":"publisher","first-page":"10","DOI":"10.1186\/s12881-017-0372-0","volume":"18","author":"G Esposito","year":"2017","unstructured":"Esposito G, Testa F, Zacchia M, Crispo AA, Di Iorio V, Capolongo G, Rinaldi L, D\u2019Antonio M, Fioretti T, Iadicicco P, Rossi S, Franze A, Marciano E, Capasso G, Simonelli F, Salvatore F (2017) Genetic characterization of Italian patients with Bardet\u2013Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants. BMC Med Genet 18:10. https:\/\/doi.org\/10.1186\/s12881-017-0372-0","journal-title":"BMC Med Genet"},{"key":"9752_CR14","doi-asserted-by":"publisher","first-page":"409","DOI":"10.1136\/bjo.2007.131110","volume":"93","author":"TD Hjortshoj","year":"2009","unstructured":"Hjortshoj TD, Gronskov K, Brondum-Nielsen K, Rosenberg T (2009) A novel founder BBS1 mutation explains a unique high prevalence of Bardet\u2013Biedl syndrome in the Faroe Islands. Br J Ophthalmol 93:409\u2013413. https:\/\/doi.org\/10.1136\/bjo.2007.131110","journal-title":"Br J Ophthalmol"},{"key":"9752_CR15","doi-asserted-by":"publisher","first-page":"206","DOI":"10.1111\/j.1440-1746.1990.tb01826.x","volume":"5","author":"F Nakamura","year":"1990","unstructured":"Nakamura F, Sasaki H, Kajihara H, Yamanoue M (1990) Laurence\u2013Moon\u2013Biedl syndrome accompanied by congenital hepatic fibrosis. J Gastroenterol Hepatol 5:206\u2013210","journal-title":"J Gastroenterol Hepatol"},{"key":"9752_CR16","doi-asserted-by":"publisher","first-page":"323","DOI":"10.1159\/000055979","volume":"33","author":"K Yamada","year":"2000","unstructured":"Yamada K, Miura M, Miyayama H, Sakashita N, Kochi M, Ushio Y (2000) Diffuse brainstem glioma in a patient with Laurence\u2013Moon\u2013(Bardet\u2013)Biedl syndrome. Pediatr Neurosurg 33:323\u2013327. https:\/\/doi.org\/10.1159\/000055979","journal-title":"Pediatr Neurosurg"},{"key":"9752_CR17","doi-asserted-by":"publisher","first-page":"102","DOI":"10.1016\/j.clineuro.2008.08.008","volume":"111","author":"Y Tonomura","year":"2009","unstructured":"Tonomura Y, Hirano M, Shimada K, Asai H, Ikeda M, Kataoka H, Tanaka I, Konishi N, Ueno S (2009) Treatable fluctuating mental impairment in a patient with Bardet\u2013Biedl syndrome. Clin Neurol Neurosurg 111:102\u2013104. https:\/\/doi.org\/10.1016\/j.clineuro.2008.08.008","journal-title":"Clin Neurol Neurosurg"},{"key":"9752_CR18","doi-asserted-by":"publisher","first-page":"721","DOI":"10.1016\/j.braindev.2013.10.013","volume":"36","author":"K Saida","year":"2014","unstructured":"Saida K, Inaba Y, Hirano M, Satake W, Toda T, Suzuki Y, Sudo A, Noda S, Hidaka Y, Hirabayashi K, Imai H, Kurokawa T, Koike K (2014) A case of Bardet\u2013Biedl syndrome complicated with intracranial hypertension in a Japanese child. Brain Dev 36:721\u2013724. https:\/\/doi.org\/10.1016\/j.braindev.2013.10.013","journal-title":"Brain Dev"},{"key":"9752_CR19","doi-asserted-by":"publisher","first-page":"e0136317","DOI":"10.1371\/journal.pone.0136317","volume":"10","author":"M Hirano","year":"2015","unstructured":"Hirano M, Satake W, Ihara K, Tsuge I, Kondo S, Saida K, Betsui H, Okubo K, Sakamoto H, Ueno S, Ikuno Y, Ishihara R, Iwahashi H, Ohishi M, Mano T, Yamashita T, Suzuki Y, Nakamura Y, Kusunoki S, Toda T (2015) The first nationwide survey and genetic analyses of Bardet\u2013Biedl syndrome in Japan. PLoS ONE 10:e0136317. https:\/\/doi.org\/10.1371\/journal.pone.0136317","journal-title":"PLoS ONE"},{"key":"9752_CR20","doi-asserted-by":"publisher","first-page":"458","DOI":"10.1007\/s10384-018-0591-8","volume":"62","author":"K Kurata","year":"2018","unstructured":"Kurata K, Hosono K, Hikoya A, Kato A, Saitsu H, Minoshima S, Ogata T, Hotta Y (2018) Clinical characteristics of a Japanese patient with Bardet\u2013Biedl syndrome caused by BBS10 mutations. Jpn J Ophthalmol 62:458\u2013466. https:\/\/doi.org\/10.1007\/s10384-018-0591-8","journal-title":"Jpn J Ophthalmol"},{"key":"9752_CR21","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1007\/s10633-014-9473-7","volume":"130","author":"DL McCulloch","year":"2015","unstructured":"McCulloch DL, Marmor MF, Brigell MG, Hamilton R, Holder GE, Tzekov R, Bach M (2015) ISCEV standard for full-field clinical electroretinography (2015 update). Doc Ophthalmol 130:1\u201312. https:\/\/doi.org\/10.1007\/s10633-014-9473-7","journal-title":"Doc Ophthalmol"},{"key":"9752_CR22","doi-asserted-by":"publisher","first-page":"161","DOI":"10.3109\/13816810.2014.991931","volume":"37","author":"S Katagiri","year":"2016","unstructured":"Katagiri S, Hayashi T, Kondo M, Tsukitome H, Yoshitake K, Akahori M, Ikeo K, Tsuneoka H, Iwata T (2016) RPE65 mutations in two Japanese families with Leber congenital amaurosis. Ophthalmic Genet 37:161\u2013169. https:\/\/doi.org\/10.3109\/13816810.2014.991931","journal-title":"Ophthalmic Genet"},{"key":"9752_CR23","doi-asserted-by":"publisher","unstructured":"Ninomiya Y, Mizobuchi K, Hayashi T, Okude S, Katagiri S, Kubo A, Masuhara N, Nakano T (2020) Electroretinographic abnormalities associated with pregabalin: a case report. Doc Ophthalmol https:\/\/doi.org\/10.1007\/s10633-019-09743-1","DOI":"10.1007\/s10633-019-09743-1"},{"key":"9752_CR24","first-page":"286","volume":"24","author":"S Katagiri","year":"2018","unstructured":"Katagiri S, Hosono K, Hayashi T, Kurata K, Mizobuchi K, Matsuura T, Yoshitake K, Iwata T, Nakano T, Hotta Y (2018) Early onset flecked retinal dystrophy associated with new compound heterozygous RPE65 variants. Mol Vis 24:286\u2013296","journal-title":"Mol Vis"},{"key":"9752_CR25","doi-asserted-by":"publisher","first-page":"16733","DOI":"10.1038\/s41598-018-35152-6","volume":"8","author":"S Katagiri","year":"2018","unstructured":"Katagiri S, Hayashi T, Yoshitake K, Murai N, Matsui Z, Kubo H, Satoh H, Matsufuji S, Takamura T, Yokoo T, Omori Y, Furukawa T, Iwata T, Nakano T (2018) Compound heterozygous splice site variants in the SCLT1 gene highlight an additional candidate locus for Senior\u2013Loken syndrome. Sci Rep 8:16733. https:\/\/doi.org\/10.1038\/s41598-018-35152-6","journal-title":"Sci Rep"},{"key":"9752_CR26","doi-asserted-by":"publisher","first-page":"1425","DOI":"10.1001\/archophthalmol.2012.2434","volume":"130","author":"A Estrada-Cuzcano","year":"2012","unstructured":"Estrada-Cuzcano A, Koenekoop RK, Senechal A, De Baere EB, de Ravel T, Banfi S, Kohl S, Ayuso C, Sharon D, Hoyng CB, Hamel CP, Leroy BP, Ziviello C, Lopez I, Bazinet A, Wissinger B, Sliesoraityte I, Avila-Fernandez A, Littink KW, Vingolo EM, Signorini S, Banin E, Mizrahi-Meissonnier L, Zrenner E, Kellner U, Collin RW, den Hollander AI, Cremers FP, Klevering BJ (2012) BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet\u2013Biedl syndrome. Arch Ophthalmol 130:1425\u20131432. https:\/\/doi.org\/10.1001\/archophthalmol.2012.2434","journal-title":"Arch Ophthalmol"},{"key":"9752_CR27","first-page":"783","volume":"21","author":"D Sharon","year":"2015","unstructured":"Sharon D, Banin E (2015) Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations. Mol Vis 21:783\u2013792","journal-title":"Mol Vis"},{"key":"9752_CR28","doi-asserted-by":"publisher","first-page":"967","DOI":"10.1001\/jamaophthalmol.2015.1463","volume":"133","author":"AP DeLuca","year":"2015","unstructured":"DeLuca AP, Weed MC, Haas CM, Halder JA, Stone EM (2015) Apparent Usher syndrome caused by the combination of BBS1-associated retinitis pigmentosa and SLC26A4-associated deafness. JAMA Ophthalmol 133:967\u2013968. https:\/\/doi.org\/10.1001\/jamaophthalmol.2015.1463","journal-title":"JAMA Ophthalmol"},{"key":"9752_CR29","doi-asserted-by":"publisher","first-page":"23910","DOI":"10.1038\/srep23910","volume":"6","author":"N Bravo-Gil","year":"2016","unstructured":"Bravo-Gil N, Mendez-Vidal C, Romero-Perez L, Gonzalez-del Pozo M, Rodriguez-de la Rua E, Dopazo J, Borrego S, Antinolo G (2016) Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel. Sci Rep 6:23910. https:\/\/doi.org\/10.1038\/srep23910","journal-title":"Sci Rep"},{"key":"9752_CR30","doi-asserted-by":"publisher","first-page":"75","DOI":"10.1016\/j.ajhg.2016.12.003","volume":"100","author":"KJ Carss","year":"2017","unstructured":"Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, Plagnol V, Penkett C, Stirrups K, Rizzo R, Wright G, Josifova D, Bitner-Glindzicz M, Scott RH, Clement E, Allen L, Armstrong R, Brady AF, Carmichael J, Chitre M, Henderson RHH, Hurst J, MacLaren RE, Murphy E, Paterson J, Rosser E, Thompson DA, Wakeling E, Ouwehand WH, Michaelides M, Moore AT, Webster AR, Raymond FL, Consortium NI-BRD (2017) Comprehensive rare variant analysis via whole-genome sequencing to determine the molecular pathology of inherited retinal disease. Am J Hum Genet 100:75\u201390. https:\/\/doi.org\/10.1016\/j.ajhg.2016.12.003","journal-title":"Am J Hum Genet"},{"key":"9752_CR31","doi-asserted-by":"publisher","first-page":"326","DOI":"10.1038\/nature04370","volume":"439","author":"JL Badano","year":"2006","unstructured":"Badano JL, Leitch CC, Ansley SJ, May-Simera H, Lawson S, Lewis RA, Beales PL, Dietz HC, Fisher S, Katsanis N (2006) Dissection of epistasis in oligogenic Bardet\u2013Biedl syndrome. Nature 439:326\u2013330. https:\/\/doi.org\/10.1038\/nature04370","journal-title":"Nature"},{"key":"9752_CR32","doi-asserted-by":"publisher","first-page":"1195","DOI":"10.1038\/sj.ejhg.5201688","volume":"14","author":"V Laurier","year":"2006","unstructured":"Laurier V, Stoetzel C, Muller J, Thibault C, Corbani S, Jalkh N, Salem N, Chouery E, Poch O, Licaire S, Danse JM, Amati-Bonneau P, Bonneau D, Megarbane A, Mandel JL, Dollfus H (2006) Pitfalls of homozygosity mapping: an extended consanguineous Bardet\u2013Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism. Eur J Hum Genet 14:1195\u20131203. https:\/\/doi.org\/10.1038\/sj.ejhg.5201688","journal-title":"Eur J Hum Genet"},{"key":"9752_CR33","doi-asserted-by":"publisher","first-page":"420","DOI":"10.1038\/ejhg.2011.205","volume":"20","author":"L Abu-Safieh","year":"2012","unstructured":"Abu-Safieh L, Al-Anazi S, Al-Abdi L, Hashem M, Alkuraya H, Alamr M, Sirelkhatim MO, Al-Hassnan Z, Alkuraya B, Mohamed JY, Al-Salem A, Alrashed M, Faqeih E, Softah A, Al-Hashem A, Wali S, Rahbeeni Z, Alsayed M, Khan AO, Al-Gazali L, Taschner PE, Al-Hazzaa S, Alkuraya FS (2012) In search of triallelism in Bardet\u2013Biedl syndrome. Eur J Hum Genet 20:420\u2013427. https:\/\/doi.org\/10.1038\/ejhg.2011.205","journal-title":"Eur J Hum Genet"},{"key":"9752_CR34","doi-asserted-by":"publisher","first-page":"5004","DOI":"10.1167\/iovs.06-0517","volume":"47","author":"AA Azari","year":"2006","unstructured":"Azari AA, Aleman TS, Cideciyan AV, Schwartz SB, Windsor EA, Sumaroka A, Cheung AY, Steinberg JD, Roman AJ, Stone EM, Sheffield VC, Jacobson SG (2006) Retinal disease expression in Bardet\u2013Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration. Invest Ophthalmol Vis Sci 47:5004\u20135010. https:\/\/doi.org\/10.1167\/iovs.06-0517","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"9752_CR35","doi-asserted-by":"publisher","first-page":"392","DOI":"10.1016\/j.visres.2007.08.024","volume":"48","author":"C Gerth","year":"2008","unstructured":"Gerth C, Zawadzki RJ, Werner JS, Heon E (2008) Retinal morphology in patients with BBS1 and BBS10 related Bardet\u2013Biedl syndrome evaluated by Fourier-domain optical coherence tomography. Vis Res 48:392\u2013399. https:\/\/doi.org\/10.1016\/j.visres.2007.08.024","journal-title":"Vis Res"},{"key":"9752_CR36","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/s0378-1119(02)01056-9","volume":"299","author":"M Kozak","year":"2002","unstructured":"Kozak M (2002) Pushing the limits of the scanning mechanism for initiation of translation. Gene 299:1\u201334. https:\/\/doi.org\/10.1016\/s0378-1119(02)01056-9","journal-title":"Gene"},{"key":"9752_CR37","doi-asserted-by":"publisher","first-page":"453","DOI":"10.1136\/jmg.2009.073205","volume":"47","author":"G Billingsley","year":"2010","unstructured":"Billingsley G, Bin J, Fieggen KJ, Duncan JL, Gerth C, Ogata K, Wodak SS, Traboulsi EI, Fishman GA, Paterson A, Chitayat D, Knueppel T, Millan JM, Mitchell GA, Deveault C, Heon E (2010) Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet\u2013Biedl syndrome patient population. J Med Genet 47:453\u2013463. https:\/\/doi.org\/10.1136\/jmg.2009.073205","journal-title":"J Med Genet"},{"key":"9752_CR38","doi-asserted-by":"publisher","first-page":"1661","DOI":"10.1007\/s00417-014-2701-8","volume":"252","author":"F Pichi","year":"2014","unstructured":"Pichi F, Romano S, Villani E, Lembo A, Gilardoni F, Morara M, Ciardella AP, Ohno-Matsui K, Nucci P (2014) Spectral-domain optical coherence tomography findings in pediatric tilted disc syndrome. Graefes Arch Clin Exp Ophthalmol 252:1661\u20131667. https:\/\/doi.org\/10.1007\/s00417-014-2701-8","journal-title":"Graefes Arch Clin Exp Ophthalmol"},{"key":"9752_CR39","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1016\/j.visres.2012.08.005","volume":"75","author":"KF Cox","year":"2012","unstructured":"Cox KF, Kerr NC, Kedrov M, Nishimura D, Jennings BJ, Stone EM, Sheffield VC, Iannaccone A (2012) Phenotypic expression of Bardet\u2013Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene. Vis Res 75:77\u201387. https:\/\/doi.org\/10.1016\/j.visres.2012.08.005","journal-title":"Vis Res"}],"container-title":["Documenta Ophthalmologica"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10633-020-09752-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10633-020-09752-5\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10633-020-09752-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,10,13]],"date-time":"2022-10-13T10:14:02Z","timestamp":1665656042000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10633-020-09752-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,1,29]]},"references-count":39,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2020,8]]}},"alternative-id":["9752"],"URL":"https:\/\/doi.org\/10.1007\/s10633-020-09752-5","relation":{},"ISSN":["0012-4486","1573-2622"],"issn-type":[{"type":"print","value":"0012-4486"},{"type":"electronic","value":"1573-2622"}],"subject":[],"published":{"date-parts":[[2020,1,29]]},"assertion":[{"value":"24 December 2019","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"17 January 2020","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 January 2020","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"The authors declare that there is no conflict of interest regarding this paper.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and\/or national research committee and with the 1964 Declaration of Helsinki and its later amendments or comparable ethical standards.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Statements of human rights"}},{"value":"This article does not contain any studies with animals performed by any of the authors.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Statement on the welfare of animals"}},{"value":"The patient and parents have consented to the submission of the case report to the journal.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}}]}}