{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,9,7]],"date-time":"2024-09-07T02:37:18Z","timestamp":1725676638978},"publisher-location":"Boston, MA","reference-count":16,"publisher":"Springer US","isbn-type":[{"type":"print","value":"9781468487145"},{"type":"electronic","value":"9781468487121"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[1988]]},"DOI":"10.1007\/978-1-4684-8712-1_2","type":"book-chapter","created":{"date-parts":[[2012,4,21]],"date-time":"2012-04-21T20:13:11Z","timestamp":1335039191000},"page":"11-15","source":"Crossref","is-referenced-by-count":2,"title":["Birth Prevalence and Mutation Rate of Achondroplasia in the Italian Multicentre Monitoring System for Birth Defects"],"prefix":"10.1007","author":[{"given":"G.","family":"Camera","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Mastroiacovo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"2_CR1","volume-title":"Chondrodystrophic Dwarf in Denmark","author":"ET Morch","year":"1941","unstructured":"E. T. Morch, \u201cChondrodystrophic Dwarf in Denmark\u201d, Opera ex Domo Biol. Herd. Hum, Univ. Hafn. Vol. 3, Munksgaard, Copenaghen (1941)."},{"key":"2_CR2","first-page":"76","volume":"7","author":"HM Slatis","year":"1955","unstructured":"H. M. Slatis, Comments on the rate of mutation to chondrodystrophy in man, Am. J. Hum. Genet. 7:76 (1955).","journal-title":"Am. J. Hum. Genet"},{"key":"2_CR3","first-page":"305","volume":"6","author":"FN Silvermann","year":"1967","unstructured":"F. N. Silvermann and S. Brunner, Errors in the diagnosis of achondroplasia, Acta Radiol. (Stockh.) 6:305\u2013321 (1967).","journal-title":"Acta Radiol. (Stockh.)"},{"key":"2_CR4","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1111\/j.1399-0004.1977.tb01274.x","volume":"11","author":"RJM Gardner","year":"1977","unstructured":"R. J. M. Gardner, A new estimate of the achondroplasia mutation rate, Clin. Genet. 11:31 (1977).","journal-title":"Clin. Genet"},{"key":"2_CR5","doi-asserted-by":"publisher","first-page":"140","DOI":"10.1136\/jmg.16.2.140","volume":"16","author":"F Oberklaid","year":"1979","unstructured":"F. Oberklaid, D. M. Danks, F. Jensen, L. Stace and S. Rosshandler, Achondroplasia and hypochondroplasia. Comments on frequency, mutation rate and radiological features in skull and spine, J. Med. Genet. 16:140 (1979).","journal-title":"J. Med. Genet"},{"key":"2_CR6","doi-asserted-by":"crossref","unstructured":"J. M. Orioli, E. E. Castilla and J. G. Barbosa-Neto, The birth prevalence rates for the skeletal dysplasias, J. Med. Genet. 328 (1986).","DOI":"10.1136\/jmg.23.4.328"},{"key":"2_CR7","volume-title":"Birth prevalence of skeletal dysplasias in the Italian Multicentric Monitoring System for Birth Defectsm: \u201cSkeletal Dysplasias\u201d","author":"G Camera","year":"1982","unstructured":"G. Camera and P. Mastroiacovo, Birth prevalence of skeletal dysplasias in the Italian Multicentric Monitoring System for Birth Defectsm: \u201cSkeletal Dysplasias\u201d, Alan R. Liss Inc., New York (1982)."},{"key":"2_CR8","volume-title":"The Italian birth defects monitoring system. Baseline rates based on 283,453 births and some comparisons with other registries, \u201cEpidemiology, early detection ani therapy and environmental factors\u201d","author":"P Mastroiacovo","year":"1915","unstructured":"P. Mastroiacovo, The Italian birth defects monitoring system. Baseline rates based on 283,453 births and some comparisons with other registries, \u201cEpidemiology, early detection ani therapy and environmental factors\u201d, Alan R. Liss Inc., New York (1915)."},{"key":"2_CR9","first-page":"456","volume":"26","author":"International nomenclature of constitutional diseases of bone","year":"1983","unstructured":"International nomenclature of constitutional diseases of bone, Ann. Radiol. 26:456 (1983).","journal-title":"pe=\"Underline\">Ann. Radiol."},{"key":"2_CR10","doi-asserted-by":"publisher","first-page":"312","DOI":"10.1016\/S0140-6736(55)92305-9","volume":"ii","author":"LS Penrose","year":"1955","unstructured":"L. S. Penrose, Parental age and mutation, Lancet ii:312 (1955).","journal-title":"Lancet"},{"key":"2_CR11","doi-asserted-by":"publisher","first-page":"227","DOI":"10.1111\/j.1469-1809.1970.tb01648.x","volume":"33","author":"JL Murdoch","year":"1970","unstructured":"J. L. Murdoch, B. A. Walker, J.G. Hall, H. Abbey, K. K. Smith and V. A. McKusick, Achondroplasia \u2014 a genetic and statistical survey, Ann. Hum. Genet. Lond., 33:227 (1970).","journal-title":"Ann. Hum. Genet. Lond."},{"key":"2_CR12","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1007\/978-1-4615-9068-2_4","volume-title":"Advanced in human genetics","author":"F Vogel","year":"1975","unstructured":"F. Vogel and R. Rathenberg, Spontaneous mutation in man, in: \u201cAdvanced in human genetics\u201d, 223 (1975)."},{"key":"2_CR13","first-page":"419","volume":"104","author":"C Stoll","year":"1982","unstructured":"C. Stoll, M. P. Roth and P. Bigel, A reexamination on parental ageeffect on the occurrence of new mutations for Achondroplasia, Prog. Clin. Biol. Res. 104:419 (1982).","journal-title":"Prog. Clin. Biol. Res"},{"key":"2_CR14","doi-asserted-by":"crossref","first-page":"790","DOI":"10.1016\/0002-9378(48)90425-6","volume":"65","author":"EL Potter","year":"1948","unstructured":"E. L. Potter and V. Coverstone, Chondrodystrophy fetalis, Am. J. Obstet. Gyn. 65:790 (1948).","journal-title":"Am. J. Obstet. Gyn"},{"key":"2_CR15","first-page":"81","volume":"9","author":"AC Stevenson","year":"1957","unstructured":"A. C. Stevenson, Achondroplasia: an account of condition in Northern Ireland, Am. J. Hum. Genet. 9:81 (1957).","journal-title":"Am. J. Hum. Genet"},{"key":"2_CR16","volume-title":"\u00dcber Chondrodystrophie (Achondroplasia, Chondrodys-plasie)","author":"H Schiemann","year":"1966","unstructured":"H. Schiemann, \u201c\u00dcber Chondrodystrophie (Achondroplasia, Chondrodys-plasie)\u201d, Verlag der Akademie der Wissenschaften und der Literatur in Mainz (Komm, bei Franz Steiner-Verlag, Wiesbaden) (1966)."}],"container-title":["Human Achondroplasia"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/978-1-4684-8712-1_2.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,5,1]],"date-time":"2021-05-01T20:57:40Z","timestamp":1619902660000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/978-1-4684-8712-1_2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1988]]},"ISBN":["9781468487145","9781468487121"],"references-count":16,"URL":"https:\/\/doi.org\/10.1007\/978-1-4684-8712-1_2","relation":{},"subject":[],"published":{"date-parts":[[1988]]}}}