{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T13:01:08Z","timestamp":1791896468626,"version":"4.3.4"},"reference-count":35,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2002,5]]},"abstract":"<jats:p>In 1969, Robinow and colleagues described a syndrome of mesomelic shortening, hemivertebrae, genital hypoplasia, and \u201cfetal facies\u201d. Over 100 cases have now been reported and we have reviewed the current knowledge of the clinical and genetic features of the syndrome. The gene for the autosomal recessive form was identified as the <jats:italic>ROR2<\/jats:italic> gene on chromosome 9q22. ROR2 is a receptor tyrosine kinase with orthologues in mouse and other species. The same gene, <jats:italic>ROR2<\/jats:italic>, has been shown to cause autosomal dominant brachydactyly B, but it is not known at present whether the autosomal dominant form of Robinow syndrome is also caused by mutations in <jats:italic>ROR2<\/jats:italic>.<\/jats:p>","DOI":"10.1136\/jmg.39.5.305","type":"journal-article","created":{"date-parts":[[2002,7,27]],"date-time":"2002-07-27T06:45:35Z","timestamp":1027752335000},"page":"305-310","source":"Crossref","is-referenced-by-count":129,"title":["Robinow syndrome"],"prefix":"10.1136","volume":"39","author":[{"given":"M A","family":"Patton","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A R","family":"Afzal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2002,5,1]]},"reference":[{"key":"2025101722313991000_39.5.305.1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1969.02100030647005"},{"key":"2025101722313991000_39.5.305.2","doi-asserted-by":"publisher","DOI":"10.1007\/s004390051049"},{"key":"2025101722313991000_39.5.305.3","doi-asserted-by":"publisher","DOI":"10.1038\/78107"},{"key":"2025101722313991000_39.5.305.4","doi-asserted-by":"publisher","DOI":"10.1038\/78113"},{"key":"2025101722313991000_39.5.305.5","first-page":"199","volume":"2","year":"1993","journal-title":"Clin Dysmorphol"},{"key":"2025101722313991000_39.5.305.6","doi-asserted-by":"publisher","DOI":"10.1016\/S0026-0495(98)90301-8"},{"key":"2025101722313991000_39.5.305.7","first-page":"78","volume":"23","year":"1974","journal-title":"Hum Genet"},{"key":"2025101722313991000_39.5.305.8","first-page":"189","volume":"2","year":"1993","journal-title":"Clin Dysmorphol"},{"key":"2025101722313991000_39.5.305.9","first-page":"147","volume":"8","year":"1999","journal-title":"Clin Dysmorphol"},{"key":"2025101722313991000_39.5.305.10","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.23.4.350"},{"key":"2025101722313991000_39.5.305.11","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980827)79:1<27::AID-AJMG7>3.0.CO;2-F"},{"key":"2025101722313991000_39.5.305.12","doi-asserted-by":"publisher","DOI":"10.1007\/BF02034745"},{"key":"2025101722313991000_39.5.305.13","first-page":"175","volume":"147","year":"1980","journal-title":"Johns Hopkins Med J"},{"key":"2025101722313991000_39.5.305.14","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1982.03970430026007"},{"key":"2025101722313991000_39.5.305.15","doi-asserted-by":"crossref","first-page":"481","DOI":"10.1111\/j.1399-0004.1990.tb03534.x","volume":"37","year":"1990","journal-title":"Clin Genet"},{"key":"2025101722313991000_39.5.305.16","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370418"},{"key":"2025101722313991000_39.5.305.17","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980526)77:4<332::AID-AJMG16>3.0.CO;2-J"},{"key":"2025101722313991000_39.5.305.18","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19971128)73:1<98::AID-AJMG23>3.0.CO;2-L"},{"key":"2025101722313991000_39.5.305.19","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370417"},{"key":"2025101722313991000_39.5.305.20","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.9.736"},{"key":"2025101722313991000_39.5.305.21","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1002\/pd.1970100208","volume":"10","year":"1990","journal-title":"Prenat Diagn"},{"key":"2025101722313991000_39.5.305.22","doi-asserted-by":"publisher","DOI":"10.1038\/73495"},{"key":"2025101722313991000_39.5.305.23","doi-asserted-by":"publisher","DOI":"10.1038\/73488"},{"key":"2025101722313991000_39.5.305.24","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2443.2000.00300.x"},{"key":"2025101722313991000_39.5.305.25","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1997.4653"},{"key":"2025101722313991000_39.5.305.26","doi-asserted-by":"crossref","first-page":"26181","DOI":"10.1016\/S0021-9258(18)35733-8","volume":"267","year":"1992","journal-title":"J Biol Chem"},{"key":"2025101722313991000_39.5.305.27","doi-asserted-by":"publisher","DOI":"10.1038\/23722"},{"key":"2025101722313991000_39.5.305.28","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.90.15.7109"},{"key":"2025101722313991000_39.5.305.29","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.272.18.11916"},{"key":"2025101722313991000_39.5.305.30","doi-asserted-by":"publisher","DOI":"10.1016\/S0925-4773(01)00383-5"},{"key":"2025101722313991000_39.5.305.31","doi-asserted-by":"crossref","unstructured":"Schwabe GC, Tinschert S, Buschow C, Meinecke P, Wolff G, Gillessen-Kaesbach G, Oldridge M, Wilkie AO, Komec R, Mundlos S. Distinct mutations in the receptor tyrosine kinase gene ROR2 cause brachydactyly type B. 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