{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,26]],"date-time":"2025-05-26T22:24:22Z","timestamp":1748298262858},"reference-count":18,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":1631,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2011,4]]},"DOI":"10.1002\/ajmg.a.33898","type":"journal-article","created":{"date-parts":[[2011,3,15]],"date-time":"2011-03-15T20:46:57Z","timestamp":1300222017000},"page":"845-849","source":"Crossref","is-referenced-by-count":5,"title":["Spondylometaphyseal dysplasia with cone-rod dystrophy"],"prefix":"10.1002","volume":"155","author":[{"given":"Hiroshi","family":"Kitoh","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroshi","family":"Kaneko","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mineo","family":"Kondo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshiyuki","family":"Yamamoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naoki","family":"Ishiguro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gen","family":"Nishimura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2011,3,15]]},"reference":[{"key":"10.1002\/ajmg.a.33898-BIB1|cit2","doi-asserted-by":"crossref","first-page":"2444","DOI":"10.1002\/ajmg.a.31948","article-title":"Conorenal dysplasia: A syndrome of cone-shaped epiphysis, renal disease in childhood, retinitis pigmentosa and abnormality of the proximal femur","volume":"143A","author":"Beals","year":"2007","journal-title":"Am J Med Genet Part A"},{"key":"10.1002\/ajmg.a.33898-BIB2|cit3","doi-asserted-by":"crossref","first-page":"2166","DOI":"10.1002\/ajmg.a.33016","article-title":"Severe neonatal spondylometaphyseal dysplasia in two siblings","volume":"149A","author":"Czarny-Ratajczak","year":"2009","journal-title":"Am J Med Genet Part A"},{"key":"10.1002\/ajmg.a.33898-BIB3|cit4","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1002\/(SICI)1096-8628(19980616)78:1<61::AID-AJMG13>3.0.CO;2-M","article-title":"A rare form of spondylometaphyseal dysplasia-type A4","volume":"78","author":"Duetting","year":"1998","journal-title":"Am J Med Genet"},{"key":"10.1002\/ajmg.a.33898-BIB4|cit5","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1007\/s004310050679","article-title":"Axial spondylometaphyseal dysplasia","volume":"156","author":"Ehara","year":"1997","journal-title":"Eur J Pediatr"},{"key":"10.1002\/ajmg.a.33898-BIB5|cit6","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1007\/BF00975677","article-title":"Spondylometaphyseal dysplasia in two sibs of normal parents","volume":"7","author":"Gustavson","year":"1978","journal-title":"Pediatr Radiol"},{"key":"10.1002\/ajmg.a.33898-BIB6|cit7","doi-asserted-by":"crossref","first-page":"1550","DOI":"10.1002\/ajmg.a.33397","article-title":"Axial spondylometaphyseal dysplasia: Confirmation and further delineation of a new SMD with retinal dystrophy","volume":"152A","author":"Isidor","year":"2010","journal-title":"Am J Med Genet Part A"},{"key":"10.1002\/ajmg.a.33898-BIB7|cit8","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1016\/S0888-7543(03)00010-7","article-title":"Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7)","volume":"81","author":"Johnson","year":"2003","journal-title":"Genomics"},{"key":"10.1002\/ajmg.a.33898-BIB8|cit9","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1016\/j.ajhg.2009.01.021","article-title":"Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia","volume":"87","author":"Krakow","year":"2009","journal-title":"Am J Hum Genet"},{"key":"10.1002\/ajmg.a.33898-BIB9|cit10","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1148\/radiology.175.3.2343127","article-title":"Spondylometaphyseal dysplasia, corner fracture type: A heritable condition associated with coxa vara","volume":"175","author":"Langer","year":"1990","journal-title":"Radiology"},{"key":"10.1002\/ajmg.a.33898-BIB10|cit11","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1007\/BF02018629","article-title":"The spondylometaphyseal dysplasia. A tentative classification","volume":"21","author":"Maroteaux","year":"1991","journal-title":"Pediatr Radiol"},{"key":"10.1002\/ajmg.a.33898-BIB11|cit12","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1002\/ajmg.a.30138","article-title":"A Newly recognized skeletal dysplasia with rhizomelic limbs and retinitis pigmentosa","volume":"130A","author":"M\u00e9garban\u00e9","year":"2004","journal-title":"Am J Med Genet Part A"},{"key":"10.1002\/ajmg.a.33898-BIB12|cit13","doi-asserted-by":"crossref","first-page":"1491","DOI":"10.1002\/ajmg.a.31316","article-title":"A newly recognized autosomal recessive syndrome with short stature and oculo-skeletal involvement","volume":"140A","author":"M\u00e9garban\u00e9","year":"2006","journal-title":"Am J Med Genet Part A"},{"key":"10.1002\/ajmg.a.33898-BIB13|cit14","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1136\/jmg.18.1.46","article-title":"Retinitis pigmentosa, metaphyseal chondrodysplasia, and brachydactyly: An affected brother and sister","volume":"18","author":"Phillips","year":"1981","journal-title":"J Med Genet"},{"key":"10.1002\/ajmg.a.33898-BIB14|cit15","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1002\/ajmg.1320060403","article-title":"Congenital lethal metaphyseal chondrodysplasia: A newly recognized complex autosomal recessive disorder","volume":"6","author":"Sedaghatian","year":"1980","journal-title":"Am J Med Genet"},{"key":"10.1002\/ajmg.a.33898-BIB15|cit16","doi-asserted-by":"crossref","first-page":"414","DOI":"10.1016\/j.ygeno.2009.08.015","article-title":"TULIP1 (RALGAPA1) haploinsufficiency with brain development delay","volume":"94","author":"Shimojima","year":"2009","journal-title":"Genomics"},{"key":"10.1002\/ajmg.a.33898-BIB16|cit17","doi-asserted-by":"crossref","first-page":"3186","DOI":"10.1002\/ajmg.a.32576","article-title":"Further delineation of spondylometaphyseal dysplasia with cone-rod dystrophy","volume":"146A","author":"Sousa","year":"2008","journal-title":"Am J Med Genet Part A"},{"key":"10.1002\/ajmg.a.33898-BIB17|cit18","doi-asserted-by":"crossref","first-page":"10","DOI":"10.3109\/13816810903397812","article-title":"Spondylometaphyseal dysplasia with cone-rod dystrophy","volume":"31","author":"Turell","year":"2010","journal-title":"Ophthal Genet"},{"key":"10.1002\/ajmg.a.33898-BIB18|cit19","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1002\/ajmg.a.30145","article-title":"Spondylometaphyseal dysplasia with cone-rod dystrophy","volume":"129A","author":"Walters","year":"2004","journal-title":"Am J Med Genet Part A"}],"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.33898","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/onlinelibrary.wiley.com\/wol1\/doi\/10.1002\/ajmg.a.33898\/fullpdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,4,5]],"date-time":"2024-04-05T06:21:09Z","timestamp":1712298069000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.33898"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,3,15]]},"references-count":18,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2011,4]]}},"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.33898","relation":{},"ISSN":["1552-4825"],"issn-type":[{"value":"1552-4825","type":"print"}],"subject":[],"published":{"date-parts":[[2011,3,15]]}}}