{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T20:49:35Z","timestamp":1779396575426,"version":"3.53.1"},"reference-count":11,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[1995,6,1]],"date-time":"1995-06-01T00:00:00Z","timestamp":801964800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nat Genet"],"published-print":{"date-parts":[[1995,6]]},"DOI":"10.1038\/ng0695-238","type":"journal-article","created":{"date-parts":[[2006,10,11]],"date-time":"2006-10-11T13:15:22Z","timestamp":1160572522000},"page":"238-239","source":"Crossref","is-referenced-by-count":39,"title":["The gene for pycnodysostosis maps to human chromosome 1cen\u2013q21"],"prefix":"10.1038","volume":"10","author":[{"given":"Mihael H.","family":"Polymeropoulos","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosa Isela","family":"Ortiz De Luna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan E.","family":"Ide","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosarelis","family":"Torres","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey","family":"Rubenstein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clair A.","family":"Francomano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"BFng0695238_CR1","first-page":"999","volume":"70","author":"P Maroteaux","year":"1962","unstructured":"Maroteaux, P. & Lamy, M. LaPyknodysostose. Presse Med. 70, 999\u20131002 (1962).","journal-title":"Presse Med."},{"key":"BFng0695238_CR2","doi-asserted-by":"publisher","first-page":"715","DOI":"10.1001\/jama.1965.03080090029007","volume":"191","author":"P Maroteaux","year":"1965","unstructured":"Maroteaux, P. & Lamy, M. The malady of Toulouse-Lautrec. J. Am. med. Assoc. 191, 715\u2013717 (1965).","journal-title":"J. Am. med. Assoc."},{"key":"BFng0695238_CR3","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1097\/00003086-199207000-00037","volume":"280","author":"JG Edelson","year":"1992","unstructured":"Edelson, J.G., Obad, S., Geiger, R., On, A. & Artul, H.J Pyknodysostosis: orthopedic aspects with a description of 14 new cases. Clin. Orthop. 280, 273\u2013276 (1992).","journal-title":"Clin. Orthop."},{"key":"BFng0695238_CR4","doi-asserted-by":"publisher","first-page":"70","DOI":"10.1001\/archpedi.1968.02100020072010","volume":"116","author":"HO Sedano","year":"1968","unstructured":"Sedano, H.O., Gorlin, R.J. & Anderson, V.E. Pyknodysostosis: clinical and genetic considerations. Am. J. dis. Child. 116, 70 (1968).","journal-title":"Am. J. dis. Child."},{"key":"BFng0695238_CR5","volume-title":"Birth Defects","author":"Y Sugiura","year":"1974","unstructured":"Sugiura, Y., Yama, Y. & Koh, J. Pyknodysostosis in Japan: report of six cases and review of Japanese literature. in Birth Defects, Original Article Series, vol. 10 (Alan R. Liss, New York, 1974)."},{"key":"BFng0695238_CR6","unstructured":"Cossio Lozano, G.E. Thesis in Medical Genetics, Hospital Infantil de Mexico (1990)."},{"key":"BFng0695238_CR7","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1093\/hmg\/4.1.9","volume":"4","author":"R Carmi","year":"1995","unstructured":"Carmi, R. et al. Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15. Hum. molec. Genet. 4, 9\u201313 (1995).","journal-title":"Hum. molec. Genet."},{"key":"BFng0695238_CR8","doi-asserted-by":"publisher","first-page":"246","DOI":"10.1038\/ng0694supp-246","volume":"7","author":"G Gyapay","year":"1994","unstructured":"Gyapay, G. et al. The 1993\u20131994 G\u00e9n\u00e9thon human genetic linkage map. Nature Genet. 7, 246\u2013339 (1994).","journal-title":"Nature Genet."},{"key":"BFng0695238_CR9","doi-asserted-by":"publisher","first-page":"442","DOI":"10.1038\/345442a0","volume":"345","author":"H Yoshida","year":"1990","unstructured":"Yoshida, H. et al. The murine mutation osteopetrosis is in the coding region of the macrophage clony stimulating factor gene. Nature 345, 442\u2013443 (1990).","journal-title":"Nature"},{"key":"BFng0695238_CR10","doi-asserted-by":"publisher","first-page":"3443","DOI":"10.1073\/pnas.81.11.3443","volume":"81","author":"GM Lathrop","year":"1984","unstructured":"Lathrop, G.M., Lalouel, J.-M., Julier, C. & Ott, J. Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Proc. natn. Acad. Sci. U.S.A. 81, 3443\u20133446 (1984).","journal-title":"Proc. natn. Acad. Sci. U.S.A."},{"key":"BFng0695238_CR11","doi-asserted-by":"publisher","first-page":"2693","DOI":"10.1002\/j.1460-2075.1987.tb02561.x","volume":"6","author":"MB Ladner","year":"1987","unstructured":"Ladner, M.B. et al. Human CSF-1: gene structure and alternative splicing of mRNA precursors. EMBO J. 6, 2693\u20132698 (1987).","journal-title":"EMBO J."}],"container-title":["Nature Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ng0695-238","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng0695-238.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng0695-238.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T20:41:06Z","timestamp":1684442466000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ng0695-238"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,6]]},"references-count":11,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1995,6]]}},"alternative-id":["BFng0695238"],"URL":"https:\/\/doi.org\/10.1038\/ng0695-238","relation":{},"ISSN":["1061-4036","1546-1718"],"issn-type":[{"value":"1061-4036","type":"print"},{"value":"1546-1718","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,6]]}}}