{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T16:03:33Z","timestamp":1792166613655,"version":"4.4.0"},"reference-count":12,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2002,12,10]],"date-time":"2002-12-10T00:00:00Z","timestamp":1039478400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Pediatr"],"published-print":{"date-parts":[[2003,2]]},"DOI":"10.1007\/s00431-002-1116-4","type":"journal-article","created":{"date-parts":[[2019,12,12]],"date-time":"2019-12-12T02:23:45Z","timestamp":1576117425000},"page":"100-103","source":"Crossref","is-referenced-by-count":28,"title":["Interstitial deletion of chromosome\u00a09, int del(9)(9q22.31-q31.2), including the genes causing multiple basal cell nevus syndrome and Robinow\/brachydactyly\u00a01 syndrome"],"prefix":"10.1007","volume":"162","author":[{"given":"Carla","family":"Olivieri","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Maraschio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Desiree","family":"Caselli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carla","family":"Martini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giampiero","family":"Beluffi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emanuela","family":"Maserati","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cesare","family":"Danesino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2002,12,10]]},"reference":[{"key":"1116_CR1","doi-asserted-by":"publisher","first-page":"419","DOI":"10.1038\/78107","volume":"25","author":"Afzal","year":"2000","unstructured":"Afzal AR, Rajab A, Fenske CD, Oldridge M, Elanko N, Ternes-Pereira E, Tuysuz B, Murday VA, Patton MA, Wilkie AO, Jeffery S (2000) Recessive Robinow syndrome, allelic to dominant brachydactyly type\u00a0B, is caused by mutation of ROR2. Nat Genet 25:419\u2013422","journal-title":"Nat Genet"},{"key":"1116_CR2","first-page":"117","volume":"10","author":"Boonen","year":"2002","unstructured":"Boonen SE, T\u00fcmer Z, Tommerup N, Stahl D, Rosenberg T, Kreiborg S, Kalscheuer V, Br\u00f8ndum-Nielsen K (2002) Gorlin syndrome in a patient with deletion of the distal part of chromosome\u00a09q and fine mapping of the break points with fluorescence in situ hybridization (FISH). Eur J Hum Gen 10(supp1):117 (Abs P0201)","journal-title":"Eur J Hum Gen"},{"key":"1116_CR3","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1002\/ajmg.1320270125","volume":"27","author":"Butler","year":"1987","unstructured":"Butler MG, Gale DD, Meaney FJ, Wadlington WB, Robinow M (1987) Metacarpophalangeal pattern profile analysis in Robinow syndrome. Am J Med Genet 27:219\u2013223","journal-title":"Am J Med Genet"},{"key":"1116_CR4","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1148\/105.2.375","volume":"105","author":"Garn","year":"1972","unstructured":"Garn SM, Hertzog KP, Poznanski AK, Nagy JM (1972) Metacarpophalangeal length in the evaluation of skeletal malformation. Radiology 105:375\u2013381","journal-title":"Radiology"},{"key":"1116_CR5","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s004390050459","volume":"100","author":"Guttenbach","year":"1997","unstructured":"Guttenbach M, Engel W, Schmid M (1997) Analysis of structural and numerical chromosome abnormalities in sperm of normal men and carriers of constitutional chromosome aberrations. A review. Hum Genet 100:1\u201321","journal-title":"Hum Genet"},{"key":"1116_CR6","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1016\/S0092-8674(00)81268-4","volume":"85","author":"Hahn","year":"1996","unstructured":"Hahn H, Wicking C, Zaphiropoulous PG, Gailani MR, Shanley S, Chidambaram A, Vorechovsky I, Holmberg E, Unden AB, Gillies S, Negus K, Smyth I, Pressman C, Leffell DJ, Gerrard B, Goldstein AM, Dean M, Toftgard R, Chenevix-Trench G, Wainwright B, Bale AE (1996) Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. Cell 85:841\u2013851","journal-title":"Cell"},{"key":"1116_CR7","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1038\/73495","volume":"24","author":"Oldridge","year":"2000","unstructured":"Oldridge M, Fortuna AM, Maringa M, Propping P, Mansour S, Pollitt C, DeChiara TM, Kimble RB, Valenzuela DM, Yancopoulos GD, Wilkie AO (2000) Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type\u00a0B. Nat Genet 24:275\u2013278","journal-title":"Nat Genet"},{"key":"1116_CR8","doi-asserted-by":"crossref","first-page":"E39","DOI":"10.1136\/jmg.39.7.e39","volume":"39","author":"Olivieri","year":"2002","unstructured":"Olivieri C, Mira E, Del\u00f9 G, Pagella F, Zambelli A, Malvezzi L, Buscarini E, Danesino C (2002) Identification of 13 new mutations in the ACVRL1 gene in a group of 52 unselected Italian patients affected by hereditary haemorrhagic telangiectasia. J Med Genet 39:E39","journal-title":"J Med Genet"},{"key":"1116_CR9","unstructured":"Schinzel A (2001) Catalogue of unbalanced chromosome aberrations in man, 2nd edn. de Gruyter, Berlin"},{"key":"1116_CR10","first-page":"417","volume":"59","author":"Shimkets","year":"1996","unstructured":"Shimkets R, Gailani MR, Siu VM, Yang-Feng T, Pressman CL, Levanat S, Goldstein A, Dean M, Bale AE (1996) Molecular analysis of chromosome\u00a09q deletions in two Gorlin syndrome patients. Am J Hum Genet 59:417\u2013422","journal-title":"Am J Hum Genet"},{"key":"1116_CR11","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1046\/j.1365-2443.2000.00300.x","volume":"5","author":"Takeuchi","year":"2000","unstructured":"Takeuchi S, Takeda K, Oishi I, Nomi M, Ikeya M, Itoh K, Tamura S, Ueda T, Hatta T, Otani H, Terashima T, Takada S, Yamamura H, Akira S, Minami Y (2000) Mouse Ror2 receptor tyrosine kinase is required for the heart development and limb formation. Genes Cells 5:71\u201378","journal-title":"Genes Cells"},{"key":"1116_CR12","doi-asserted-by":"publisher","first-page":"423","DOI":"10.1038\/78113","volume":"25","author":"Van","year":"2000","unstructured":"Van Bokhoven H, Celli J, Kayserili H, Van Beusekom E, Balci S, Brussel W, Skovby F, Kerr B, Percin EF, Akarsu N, Brunner HG (2000) Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome. Nat Genet 25:423\u2013426","journal-title":"Nat Genet"}],"container-title":["European Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00431-002-1116-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00431-002-1116-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00431-002-1116-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,12,12]],"date-time":"2019-12-12T02:23:50Z","timestamp":1576117430000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00431-002-1116-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,12,10]]},"references-count":12,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2003,2]]}},"alternative-id":["1116"],"URL":"https:\/\/doi.org\/10.1007\/s00431-002-1116-4","relation":{},"ISSN":["0340-6199","1432-1076"],"issn-type":[{"value":"0340-6199","type":"print"},{"value":"1432-1076","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,12,10]]}}}