{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,23]],"date-time":"2025-10-23T11:00:09Z","timestamp":1761217209393},"reference-count":13,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2008,5,13]],"date-time":"2008-05-13T00:00:00Z","timestamp":1210636800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2009,4]]},"DOI":"10.1002\/ajmg.a.32343","type":"journal-article","created":{"date-parts":[[2008,5,13]],"date-time":"2008-05-13T21:46:44Z","timestamp":1210715204000},"page":"788-792","source":"Crossref","is-referenced-by-count":4,"title":["Cone\u2010rod dystrophy, growth hormone deficiency and spondyloepiphyseal dysplasia: Report of a new case without nephronophtisis"],"prefix":"10.1002","volume":"149A","author":[{"given":"Bertrand","family":"Isidor","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martine","family":"Le Merrer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emmanuelle","family":"Ramos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sabine","family":"Baron","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Albert","family":"David","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,3,24]]},"reference":[{"key":"e_1_2_2_2_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.genom.7.080505.115610"},{"key":"e_1_2_2_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng2038"},{"key":"e_1_2_2_4_1","first-page":"449","article-title":"Juvenile nephronophthisis associated with new skeletal abnormalities, tapetoretinal degeneration and liver fibrosis","volume":"43","author":"Bianchi C","year":"1988","journal-title":"Helv Paediat Acta"},{"key":"e_1_2_2_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19971128)73:1<1::AID-AJMG1>3.0.CO;2-Y"},{"key":"e_1_2_2_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00973675"},{"key":"e_1_2_2_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1338"},{"key":"e_1_2_2_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1975.tb01502.x"},{"key":"e_1_2_2_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320330311"},{"key":"e_1_2_2_10_1","first-page":"556","article-title":"Familial nephropathy associated with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities","volume":"49","author":"Mainzer F","year":"1970","journal-title":"Am J Med Genet"},{"key":"e_1_2_2_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30138"},{"key":"e_1_2_2_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31316"},{"key":"e_1_2_2_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320240106"},{"key":"e_1_2_2_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30145"}],"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.32343","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32343","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T04:14:37Z","timestamp":1697602477000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32343"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,3,24]]},"references-count":13,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2009,4]]}},"alternative-id":["10.1002\/ajmg.a.32343"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32343","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,3,24]]}}}