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At least in some instances aggressive treatment may allow others with this condition to survive with a reasonable quality of life.<\/jats:p>","DOI":"10.1002\/ajmg.1320160404","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T00:46:37Z","timestamp":1118537197000},"page":"459-473","source":"Crossref","is-referenced-by-count":67,"title":["Homozygous achondroplasia with survival beyond infancy"],"prefix":"10.1002","volume":"16","author":[{"given":"Richard M.","family":"Pauli","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary M.","family":"Conroy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"Jr.","given":"Leonard O.","family":"Langer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David G.","family":"McLone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Naidich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ralph","family":"Franciosi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ian M.","family":"Ratner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen C.","family":"Copps","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,2]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"473","volume-title":"Genetics, Evolution and Man","author":"Bodmer WF","year":"1976"},{"issue":"4","key":"e_1_2_1_3_1","first-page":"24","article-title":"Two probable cases of homozygosity for the achondroplasia gene","volume":"5","author":"Hall JG","year":"1969","journal-title":"Birth Defects"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(78)81152-4"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0029-1231172"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1673.1977.tb03189.x"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1148\/92.2.285"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.10.1.11"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.16.2.140"},{"key":"e_1_2_1_10_1","first-page":"68","article-title":"Histologic appearances of some types of congenital dwarfism","volume":"4","author":"Rimoin DL","year":"1973","journal-title":"Prog Pediatr Radiol"},{"key":"e_1_2_1_11_1","first-page":"184","article-title":"Homozygote Achondroplasie und thantophorer Zwerg\u2010wuch\u2014Pr\u00e4natal diagnostizierbare Skelettst\u00f6runger","volume":"32","author":"Rogovits N","year":"1972","journal-title":"Gebursthilfe Frauenheilkd"},{"key":"e_1_2_1_12_1","first-page":"61","article-title":"Radiographic diagnosis of neonatal short\u2010limbed dwarfism","volume":"49","author":"Saldino RM","year":"1973","journal-title":"Med Radiogr Photogr"},{"key":"e_1_2_1_13_1","first-page":"813","article-title":"Morphologic studies in the skeletal dysplasias","volume":"96","author":"Sillence DO","year":"1979","journal-title":"Am J Pathol"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320090105"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9378(70)90534-X"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320160404","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320160404","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,19]],"date-time":"2023-10-19T13:51:36Z","timestamp":1697723496000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320160404"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1983,12]]},"references-count":14,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1983,12]]}},"alternative-id":["10.1002\/ajmg.1320160404"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320160404","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1983,12]]}}}