{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T00:44:11Z","timestamp":1789778651969,"version":"4.0.1"},"reference-count":11,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2010,6,25]],"date-time":"2010-06-25T00:00:00Z","timestamp":1277424000000},"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":[[2010,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Achondrogenesis Type II (ACG2) is a lethal skeletal disorder caused by a dominant mutation in the type II collagen gene (<jats:italic>COL2A1<\/jats:italic>). Familial cases have been reported, suggesting both germline and somatic mosaicism. We report on two pregnancies from the same couple with gross, radiologic, and microscopic findings of ACG2. Molecular analysis of the second infant demonstrated heterozygosity for a c.2303G\u2009&gt;\u2009A transition (p.Gly768Asp) in exon 33 of the <jats:italic>COL2A1<\/jats:italic> gene. Although this mutation could not be proven by molecular studies in the first infant, identical findings in two affected pregnancies support germline mosaicism as the cause of ACG2 in this family. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33463","type":"journal-article","created":{"date-parts":[[2010,6,26]],"date-time":"2010-06-26T06:53:40Z","timestamp":1277535220000},"page":"1822-1824","source":"Crossref","is-referenced-by-count":22,"title":["Recurrence of achondrogenesis type 2 in sibs: Additional evidence for germline mosaicism"],"prefix":"10.1002","volume":"152A","author":[{"given":"Jessica M.","family":"Comstock","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angelica R.","family":"Putnam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nikhil","family":"Sangle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy","family":"Lowichik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nancy C.","family":"Rose","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":[[2010,6,25]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(88)80113-6"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20597"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32047"},{"key":"e_1_2_5_5_1","first-page":"190","article-title":"Contributo allo studio delle malattie del mesenchima osteopoietico. L'achondrogenesi","volume":"1","author":"Fraccaro M","year":"1951","journal-title":"Folia Hered Pathol"},{"key":"e_1_2_5_6_1","first-page":"23","article-title":"Die Achondrogenesis\u2014ein einfach recessives Erbmerkmal","volume":"2","author":"Grebe H","year":"1953","journal-title":"Folia Hered Pathol"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1972.tb01477.x"},{"key":"e_1_2_5_8_1","first-page":"45","article-title":"Fatal neonatal dwarfism","volume":"23","author":"Houston CS","year":"1972","journal-title":"J Can Assoc Radiol"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1148\/92.2.285"},{"key":"e_1_2_5_10_1","first-page":"447","article-title":"L'anosteogenesi: Una variet\u00e0 della osteogenesi imperfecta","volume":"28","author":"Parenti GC","year":"1936","journal-title":"Pathologica"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.112.1.185"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31483"}],"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.33463","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.33463","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T12:55:42Z","timestamp":1696683342000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.33463"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,6,25]]},"references-count":11,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2010,7]]}},"alternative-id":["10.1002\/ajmg.a.33463"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.33463","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,6,25]]}}}