{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T06:05:33Z","timestamp":1777442733629,"version":"3.51.4"},"reference-count":35,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,5,16]],"date-time":"2005-05-16T00:00:00Z","timestamp":1116201600000},"content-version":"vor","delay-in-days":3465,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1995,11,20]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a patient with manifestations typical of Mohr syndrome and of the short rib (polydactyly) syndromes (SR(P)S) Majewski, Verma\u2010Naumoff, Beemer, and Jeune. It seems possible that the different types of SR(P) syndromes, rather than being distinct conditions, are part of a large disease spectrum. The frequent overlap between orofaciodigital syndromes and SR(P) syndromes may be interpreted as the outcome of deletions of different size within the same chromosome region. \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320590316","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T18:15:22Z","timestamp":1118513722000},"page":"359-364","source":"Crossref","is-referenced-by-count":31,"title":["Short rib\u2010dysplasia group (with\/without polydactyly): Report of a patient suggesting the existence of a continuous spectrum"],"prefix":"10.1002","volume":"59","author":[{"given":"P.","family":"Franceschini","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Guala","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. P.","family":"Vardeu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Signorile","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Franceschini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. P.","family":"Bolgiani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,5,16]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.20.1.65"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320140116"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01959352"},{"key":"e_1_2_1_5_1","first-page":"1529","volume-title":"Birth Defects Encyclopedia","author":"Bernstein R","year":"1990"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.22.1.46"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.61.3.427"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320490103"},{"key":"e_1_2_1_9_1","first-page":"252","article-title":"Ellis\u2010van Creveld syndrome","volume":"27","author":"Brueton LA","year":"1990","journal-title":"Jeune syndrome and renal\u2010hepatic\u2010pancreatic dysplasia: separate entities or disease spectrum? J Med Genet"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.21.3.189"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320530209"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00444756"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320460302"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1987.tb02817.x"},{"key":"e_1_2_1_15_1","first-page":"257","article-title":"Le syndrome de Mohr","volume":"3","author":"Cotton JR","year":"1979","journal-title":"Pediatrie"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.15.82.65"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1983.tb00067.x"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320410220"},{"key":"e_1_2_1_19_1","first-page":"886","article-title":"Dystrophie thoracioue asphyxiante de caract\u00e8re familial","volume":"12","author":"Jeune M","year":"1955","journal-title":"Arch Fr Pediatr"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320390303"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00446428"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470536"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.11.937"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.3.200"},{"key":"e_1_2_1_25_1","first-page":"1","article-title":"A hereditary sublethal syndrome in man","volume":"14","author":"Mohr O","year":"1941","journal-title":"Avh Norske Videnskad Oslo"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320350310"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1148\/122.2.443"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320320202"},{"key":"e_1_2_1_29_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.114.2.257"},{"key":"e_1_2_1_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320430609"},{"key":"e_1_2_1_31_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4757-9065-8_1"},{"key":"e_1_2_1_32_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199407000-00010"},{"key":"e_1_2_1_33_1","series-title":"BD:OAS","first-page":"431","volume-title":"The Genetics of Hand Malformations","author":"Temtamy S","year":"1978"},{"key":"e_1_2_1_34_1","first-page":"410","volume-title":"Winter and Baraitser \u201cMultiple Congential Anomalies. A Diagnostic Compendium","author":"Winter RM","year":"1991"},{"key":"e_1_2_1_35_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320280523"},{"key":"e_1_2_1_36_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320390302"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320590316","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320590316","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T15:36:02Z","timestamp":1698248162000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320590316"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,11,20]]},"references-count":35,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1995,11,20]]}},"alternative-id":["10.1002\/ajmg.1320590316"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320590316","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,11,20]]}}}