{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T12:22:08Z","timestamp":1792412528039,"version":"4.4.0"},"reference-count":92,"publisher":"Hindawi Limited","issue":"1","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":4463,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum. Mutat."],"published-print":{"date-parts":[[2003,7]]},"DOI":"10.1002\/humu.10233","type":"journal-article","created":{"date-parts":[[2003,6,16]],"date-time":"2003-06-16T10:13:04Z","timestamp":1055758384000},"page":"1-11","source":"Crossref","is-referenced-by-count":84,"title":["One gene, two phenotypes:ROR2 mutations in autosomal recessive Robinow syndrome and autosomal dominant brachydactyly type B"],"prefix":"10.1155","volume":"22","author":[{"given":"Ali R.","family":"Afzal","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steve","family":"Jeffery","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"98","published-online":{"date-parts":[[2003,6,13]]},"reference":[{"key":"BIB1","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1007\/s004390051049","volume":"106","author":"Afzal","year":"2000a","journal-title":"Hum Genet"},{"key":"BIB2","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1038\/78107","volume":"25","author":"Afzal","year":"2000b","journal-title":"Nat Genet"},{"key":"BIB3","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1002\/(SICI)1096-8628(19980526)77:4<332::AID-AJMG16>3.0.CO;2-J","volume":"77","author":"Al-Ata","year":"1998","journal-title":"Am J Med Genet"},{"key":"BIB4","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1007\/s004270100140","volume":"211","author":"Al-Shawi","year":"2001","journal-title":"Dev Genes Evol"},{"key":"BIB5","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/(SICI)1098-1004(1998)11:1<1::AID-HUMU1>3.0.CO;2-O","volume":"11","author":"Antonarakis","year":"1998","journal-title":"Hum Mutat"},{"key":"BIB6","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1097\/00019605-199307000-00003","volume":"2","author":"Atalay","year":"1993","journal-title":"Clin Dysmorphol"},{"key":"BIB7","first-page":"199","volume":"2","author":"Balci","year":"1993","journal-title":"Clin Dysmorphol"},{"key":"BIB8","doi-asserted-by":"crossref","first-page":"408","DOI":"10.2337\/diab.41.4.408","volume":"41","author":"Barbetti","year":"1992","journal-title":"Diabetes"},{"key":"BIB9","first-page":"1","volume-title":"Treasury of human inheritance","author":"Bell","year":"1951","unstructured":"1951. On brachydactyly and symphalangism. In: Treasury of human inheritance. London: Cambridge University Press. p 1-31."},{"key":"BIB10","doi-asserted-by":"crossref","first-page":"1561","DOI":"10.1093\/hmg\/3.9.1561","volume":"3","author":"Brunner","year":"1994","journal-title":"Hum Mol Genet"},{"key":"BIB11","doi-asserted-by":"crossref","first-page":"894","DOI":"10.1210\/jcem-73-4-894","volume":"73","author":"Cama","year":"1991","journal-title":"J Clin Endocr Metab"},{"key":"BIB12","doi-asserted-by":"crossref","first-page":"8060","DOI":"10.1016\/S0021-9258(18)53063-5","volume":"268","author":"Cama","year":"1993","journal-title":"J Biol Chem"},{"key":"BIB13","doi-asserted-by":"crossref","first-page":"25202","DOI":"10.1016\/S0021-9258(19)74025-3","volume":"267","author":"Chan","year":"1992","journal-title":"J Biol Chem"},{"key":"BIB14","doi-asserted-by":"crossref","first-page":"521","DOI":"10.2337\/diab.41.4.521","volume":"41","author":"Cocozza","year":"1992","journal-title":"Diabetes"},{"key":"BIB15","doi-asserted-by":"crossref","first-page":"10957","DOI":"10.1074\/jbc.272.16.10957","volume":"18","author":"Cunningham","year":"1997","journal-title":"J Biol Chem"},{"key":"BIB16","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1038\/73488","volume":"24","author":"DeChiara","year":"2000","journal-title":"Nat Genet"},{"key":"BIB17","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1002\/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N","volume":"15","author":"den Dunnen","year":"2000","journal-title":"Hum Mutat"},{"key":"BIB18","doi-asserted-by":"crossref","first-page":"429","DOI":"10.2337\/diab.42.3.429","volume":"42","author":"Elbein","year":"1993","journal-title":"Diabetes"},{"key":"BIB19","doi-asserted-by":"crossref","first-page":"1831","DOI":"10.1242\/dev.124.9.1831","volume":"124","author":"Forrester","year":"1997","journal-title":"Development"},{"key":"BIB20","doi-asserted-by":"crossref","first-page":"881","DOI":"10.1038\/23722","volume":"400","author":"Forrester","year":"1999","journal-title":"Nature"},{"key":"BIB21","doi-asserted-by":"crossref","first-page":"1893","DOI":"10.1093\/hmg\/8.10.1893","volume":"8","author":"Frischmeyer","year":"1999","journal-title":"Hum Mol Genet"},{"key":"BIB22","doi-asserted-by":"crossref","first-page":"1071","DOI":"10.1242\/dev.117.3.1071","volume":"117","author":"Garriga","year":"1993","journal-title":"Development"},{"key":"BIB23","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1086\/302249","volume":"64","author":"Gong","year":"1999","journal-title":"Am J Hum Genet"},{"key":"BIB24","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1016\/0076-6879(91)00126-H","volume":"200","author":"Hanks","year":"1991","journal-title":"Methods Enzymol"},{"key":"BIB25","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1136\/jmg.31.9.715","volume":"31","author":"Hone","year":"1994","journal-title":"J Med Genet"},{"key":"BIB26","first-page":"224","volume":"3","author":"Houlston","year":"1994","journal-title":"Clin Dysmorphol"},{"key":"BIB27","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1126\/science.2834824","volume":"240","author":"Kadowaki","year":"1988","journal-title":"Science"},{"key":"BIB28","doi-asserted-by":"crossref","first-page":"19143","DOI":"10.1016\/S0021-9258(17)30636-1","volume":"265","author":"Kadowaki","year":"1990","journal-title":"J Biol Chem"},{"key":"BIB29","doi-asserted-by":"crossref","first-page":"21224","DOI":"10.1016\/S0021-9258(18)54844-4","volume":"266","author":"Kadowaki","year":"1991","journal-title":"J Biol Chem"},{"key":"BIB30","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/(SICI)1096-8628(19990507)84:1<1::AID-AJMG1>3.0.CO;2-C","volume":"84","author":"Kantaputra","year":"1999","journal-title":"Am J Med Genet"},{"key":"BIB31","first-page":"252","volume":"4","author":"Kellie","year":"1808","journal-title":"Edinburgh Med Surg J"},{"key":"BIB32","doi-asserted-by":"crossref","first-page":"2503","DOI":"10.1002\/j.1460-2075.1989.tb08387.x","volume":"8","author":"Klinkhamer","year":"1989","journal-title":"EMBO J"},{"key":"BIB33","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1016\/0140-6736(93)91820-C","volume":"342","author":"Krook","year":"1993","journal-title":"Lancet"},{"key":"BIB34","first-page":"175","volume":"147","author":"Lee","year":"1980","journal-title":"Johns Hopkins Med J"},{"key":"BIB35","first-page":"1275","volume":"7","author":"Leonard","year":"1993","journal-title":"Molec Endocr"},{"key":"BIB36","first-page":"998","volume":"50","author":"Longo","year":"1992","journal-title":"Am J Hum Genet"},{"key":"BIB37","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1073\/pnas.90.1.60","volume":"90","author":"Longo","year":"1993","journal-title":"Proc Nat Acad Sci"},{"key":"BIB38","doi-asserted-by":"crossref","first-page":"26181","DOI":"10.1016\/S0021-9258(18)35733-8","volume":"267","author":"Masiakowski","year":"1992","journal-title":"J Biol Chem"},{"key":"BIB39","doi-asserted-by":"crossref","first-page":"r407","DOI":"10.1016\/S0960-9822(98)70263-5","volume":"4","author":"Masiakowski","year":"1998","journal-title":"Curr Biol"},{"key":"BIB40","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/S0925-4773(01)00383-5","volume":"105","author":"Matsuda","year":"2001","journal-title":"Mech Dev"},{"key":"BIB41","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1086\/302750","volume":"66","author":"Melkoniemi","year":"2000","journal-title":"Am J Hum Genet"},{"key":"BIB42","doi-asserted-by":"crossref","first-page":"1145","DOI":"10.1002\/j.1460-2075.1994.tb06363.x","volume":"13","author":"Miller","year":"1994","journal-title":"EMBO J"},{"key":"BIB43","doi-asserted-by":"crossref","first-page":"1183","DOI":"10.1210\/mend-4-8-1183","volume":"4","author":"Moller","year":"1990a","journal-title":"Molec Endocr"},{"key":"BIB44","first-page":"435a","volume":"38","author":"Moller","year":"1990b","journal-title":"Clin Res"},{"key":"BIB45","doi-asserted-by":"crossref","first-page":"247","DOI":"10.2337\/diab.43.2.247","volume":"43","author":"Moller","year":"1994","journal-title":"Diabetes"},{"key":"BIB46","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1006\/geno.1999.5807","volume":"15","author":"Moreira","year":"1999","journal-title":"Genomics"},{"key":"BIB47","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1126\/science.2544998","volume":"245","author":"Odawara","year":"1989","journal-title":"Science"},{"key":"BIB48","doi-asserted-by":"crossref","first-page":"4251","DOI":"10.1002\/j.1460-2075.1993.tb06109.x","volume":"12","author":"Ohlsson","year":"1993","journal-title":"EMBO J"},{"key":"BIB49","doi-asserted-by":"crossref","first-page":"11916","DOI":"10.1074\/jbc.272.18.11916","volume":"272","author":"Oishi","year":"1997","journal-title":"J Biol Chem"},{"key":"BIB50","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1046\/j.1365-2443.1999.00234.x","volume":"4","author":"Oishi","year":"1999","journal-title":"Genes Cells"},{"key":"BIB51","doi-asserted-by":"crossref","first-page":"578","DOI":"10.1086\/302255","volume":"64","author":"Oldridge","year":"1999","journal-title":"Am J Hum Genet"},{"key":"BIB52","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1038\/73495","volume":"24","author":"Oldridge","year":"2000","journal-title":"Nat Genet"},{"key":"BIB53","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1111\/j.1365-2265.1992.tb00945.x","volume":"36","author":"O'Rahilly","year":"1992","journal-title":"Clin Endocrinol"},{"key":"BIB54","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1136\/jmg.39.5.305","volume":"39","author":"Patton","year":"2002","journal-title":"J Med Genet"},{"key":"BIB55","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1002\/(SICI)1096-8628(19981102)80:2<115::AID-AJMG5>3.0.CO;2-O","volume":"80","author":"Pihlajamaa","year":"1998","journal-title":"Am J Med Genet"},{"key":"BIB56","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1038\/ng0997-18","volume":"17","author":"Polinkovsky","year":"1997","journal-title":"Nat Genet"},{"key":"BIB57","first-page":"1555","volume":"13","author":"Reddy","year":"1996","journal-title":"Oncogene"},{"key":"BIB58","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1006\/geno.1997.4653","volume":"41","author":"Reddy","year":"1997","journal-title":"Genomics"},{"key":"BIB59","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1016\/S0168-9525(00)02021-7","volume":"16","author":"Robertson","year":"2000","journal-title":"Trends Genet"},{"key":"BIB60","first-page":"645","volume":"117","author":"Robinow","year":"1969","journal-title":"Am J Dis Child"},{"key":"BIB61","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1097\/00019605-199307000-00001","volume":"2","author":"Robinow","year":"1993","journal-title":"Clin Dysmorphol"},{"key":"BIB62","doi-asserted-by":"crossref","first-page":"18485","DOI":"10.1074\/jbc.M100100200","volume":"276","author":"Roszmusz","year":"2001","journal-title":"J Biol Chem"},{"key":"BIB63","first-page":"897","volume":"50","author":"Samoud","year":"1993","journal-title":"Arch Fr Pediatr"},{"key":"BIB64","first-page":"43","volume":"31","author":"Sanz","year":"1988","journal-title":"Ann Genet"},{"key":"BIB65","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1016\/S0092-8674(00)00114-8","volume":"103","author":"Schlessinger","year":"2000","journal-title":"Cell"},{"key":"BIB66","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1007\/BF02034745","volume":"149","author":"Schonau","year":"1990","journal-title":"Eur J Pediatr"},{"key":"BIB67","doi-asserted-by":"crossref","first-page":"822","DOI":"10.1086\/303084","volume":"67","author":"Schwabe","year":"2000","journal-title":"Am J Hum Genet"},{"key":"BIB68","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1007\/BF00400255","volume":"35","author":"Shimada","year":"1992","journal-title":"Diabetologia"},{"key":"BIB69","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1016\/S0022-3476(98)70466-4","volume":"132","author":"Sirko-Osadsa","year":"1998","journal-title":"J Pediatr"},{"key":"BIB70","first-page":"138","volume":"17","author":"Soliman","year":"1998","journal-title":"Nat Genet"},{"key":"BIB71","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1038\/ng0197-106","volume":"15","author":"Stoffers","year":"1997a","journal-title":"Nat Genet"},{"key":"BIB72","first-page":"1041","volume":"21","author":"Stoffers","year":"1997b","journal-title":"Cell"},{"key":"BIB73","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1002\/ajmg.10233","volume":"106","author":"Superti-Furga","year":"2001","journal-title":"Am J Med Genet"},{"key":"BIB74","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1046\/j.1365-2443.2000.00300.x","volume":"5","author":"Takeuchi","year":"2000","journal-title":"Genes Cells"},{"key":"BIB75","doi-asserted-by":"crossref","first-page":"257","DOI":"10.2337\/diacare.13.3.257","volume":"13","author":"Taylor","year":"1990","journal-title":"Diabetes Care"},{"key":"BIB76","doi-asserted-by":"crossref","first-page":"1158","DOI":"10.1210\/jcem-73-6-1158","volume":"73","author":"Taylor","year":"1991","journal-title":"J Clin Endocrinol Metab"},{"key":"BIB77","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1002\/ajmg.1320350112","volume":"35","author":"Teebi","year":"1990","journal-title":"Am J Med Genet"},{"key":"BIB78","first-page":"1337","volume":"47","author":"Thomas","year":"1990","journal-title":"Metabolism"},{"key":"BIB79","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1038\/ng0396-315","volume":"12","author":"Thomas","year":"1996","journal-title":"Nat Genet"},{"key":"BIB80","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1038\/ng0997-58","volume":"17","author":"Thomas","year":"1997","journal-title":"Nat Genet"},{"key":"BIB81","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1038\/78113","volume":"25","author":"van Bokhoven","year":"2000","journal-title":"Nat Genet"},{"key":"BIB82","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1016\/S0021-9258(18)48459-1","volume":"267","author":"van der Vorm","year":"1992","journal-title":"J Biol Chem"},{"key":"BIB83","doi-asserted-by":"crossref","first-page":"14297","DOI":"10.1016\/S0021-9258(17)36788-1","volume":"269","author":"van der Vorm","year":"1994","journal-title":"J Biol Chem"},{"key":"BIB84","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1002\/(SICI)1096-8628(19970613)70:3<315::AID-AJMG19>3.0.CO;2-O","volume":"13","author":"van Steensel","year":"1997","journal-title":"Am J Med Genet"},{"key":"BIB85","doi-asserted-by":"crossref","first-page":"12803","DOI":"10.1073\/pnas.91.26.12803","volume":"91","author":"Vihinen","year":"1994","journal-title":"Proc Natl Acad Sci USA"},{"key":"BIB86","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1016\/0092-8674(95)90493-X","volume":"80","author":"Vikkula","year":"1995","journal-title":"Cell"},{"key":"BIB87","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1093\/hmg\/4.1.51","volume":"4","author":"Vorechovsky","year":"1995","journal-title":"Hum Mol Genet"},{"key":"BIB88","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1136\/jmg.15.2.123","volume":"15","author":"Wadia","year":"1978","journal-title":"J Med Genet"},{"key":"BIB89","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1038\/ng0993-71","volume":"5","author":"Wertheimer","year":"1993","journal-title":"Nat Genet"},{"key":"BIB90","doi-asserted-by":"crossref","first-page":"7109","DOI":"10.1073\/pnas.90.15.7109","volume":"90","author":"Wilson","year":"1993","journal-title":"Proc Natl Acad Sci USA"},{"key":"BIB91","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1001\/archpedi.1993.02160290024010","volume":"147","author":"Wright","year":"1993","journal-title":"Am J Dis Child"},{"key":"BIB92","doi-asserted-by":"crossref","first-page":"r405","DOI":"10.1016\/S0960-9822(98)70262-3","volume":"4","author":"Xu","year":"1998","journal-title":"Curr Biol"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.10233","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/humu.10233","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:50:31Z","timestamp":1672332631000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.10233"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,6,13]]},"references-count":92,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2003,7]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.10233","relation":{},"ISSN":["1059-7794","1098-1004"],"issn-type":[{"value":"1059-7794","type":"print"},{"value":"1098-1004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,6,13]]}}}