{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,6]],"date-time":"2026-04-06T19:40:11Z","timestamp":1775504411312,"version":"3.50.1"},"reference-count":9,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2008,2,11]],"date-time":"2008-02-11T00:00:00Z","timestamp":1202688000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2008,3,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe a sib recurrence for achondroplasia with parents of average stature. The three sibs shared the paternal allele and all carried the same causal mutation in the fibroblast growth factor receptor 3 gene (<jats:italic>FGFR3<\/jats:italic>): G\u2009&gt;\u2009A nt1138 (Gly380Arg). We were able to identify this mutation on sperm DNA confirming paternal germinal mosaicism. Our family shows that a more precise definition of the recurrence risk is feasible using this approach, based on a single DNA test, which could be offered in selected cases. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32228","type":"journal-article","created":{"date-parts":[[2008,2,11]],"date-time":"2008-02-11T22:19:40Z","timestamp":1202768380000},"page":"784-786","source":"Crossref","is-referenced-by-count":21,"title":["Germline mosaicism in achondroplasia detected in sperm DNA of the father of three affected sibs"],"prefix":"10.1002","volume":"146A","author":[{"given":"Federica","family":"Natacci","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Baffico","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ugo","family":"Cavallari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Francesca","family":"Bedeschi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabella","family":"Mura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessio","family":"Paffoni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paolo","family":"Levi Setti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maurizia","family":"Baldi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Faustina","family":"Lalatta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,2,11]]},"reference":[{"key":"e_1_2_5_2_1","first-page":"31","article-title":"Achondroplasia in two sisters with normal parents","volume":"10","author":"Bowen P","year":"1974","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320280421"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1983.tb02232.x"},{"key":"e_1_2_5_5_1","first-page":"163","article-title":"Germline and somatic mosaicism in achondroplasia","volume":"131","author":"Henderson S","year":"2000","journal-title":"J Med Genet"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000131)90:3<250::AID-AJMG13>3.0.CO;2-3"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.25.12.857"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320190206"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.12.958"},{"key":"e_1_2_5_10_1","first-page":"711","article-title":"Mutations in fibroblast growth\u2010factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome","volume":"63","author":"Wilkin DJ","year":"1998","journal-title":"Am J Med Genet"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.32228","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32228","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T08:21:48Z","timestamp":1697617308000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32228"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,2,11]]},"references-count":9,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2008,3,15]]}},"alternative-id":["10.1002\/ajmg.a.32228"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32228","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,2,11]]}}}