{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T13:47:49Z","timestamp":1773236869506,"version":"3.50.1"},"reference-count":5,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2013,8,16]],"date-time":"2013-08-16T00:00:00Z","timestamp":1376611200000},"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":[[2013,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Achondrogenesis 1A (ACG1A; OMIM 200600) is an autosomal recessive perinatally lethal skeletal dysplasia comprising intrauterine growth failure, micromelia, minor facial anomalies, deficient ossification of the skull, absent or extremely defective spinal ossification, short beaded ribs, and short deformed long bones with a stellate appearance. ACG1A is caused by mutations in the <jats:italic>TRIP11<\/jats:italic> gene, resulting in deficiency of the Golgi microtubule associated protein 210. In this study we describe dizygotic twins with a clinical and radiological phenotype of ACG1A who were homozygous for a novel nonsense mutation in the <jats:italic>TRIP11<\/jats:italic> gene. In addition, another patient with a milder manifestation, not readily distinguishable from those of other lethal skeletal dysplasias, was found to be a compound heterozygote for a nonsense mutation and a deletion of the 3\u2032 end of the <jats:italic>TRIP11<\/jats:italic> gene. We conclude that mutations of the <jats:italic>TRIP11<\/jats:italic> gene may encompass a wider phenotypic range than previously recognized. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36106","type":"journal-article","created":{"date-parts":[[2013,8,16]],"date-time":"2013-08-16T19:28:18Z","timestamp":1376681298000},"page":"2554-2558","source":"Crossref","is-referenced-by-count":6,"title":["The phenotype range of achondrogenesis 1A"],"prefix":"10.1002","volume":"161","author":[{"given":"Giedre","family":"Grigelioniene","sequence":"first","affiliation":[{"name":"Department of Molecular Medicine and Surgery Karolinska Institutet Stockholm Sweden"},{"name":"Department of Clinical Genetics Karolinska University Hospital Stockholm Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefan","family":"Geiberger","sequence":"additional","affiliation":[{"name":"Department of Pediatric Radiology Karolinska University Hospital Stockholm Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nikos","family":"Papadogiannakis","sequence":"additional","affiliation":[{"name":"Department of Pathology Karolinska University Hospital and Karolinska Institutet Stockholm Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Outi","family":"M\u00e4kitie","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Surgery Karolinska Institutet Stockholm Sweden"},{"name":"Department of Clinical Genetics Karolinska University Hospital Stockholm Sweden"},{"name":"Children's Hospital Helsinki University Central Hospital University of Helsinki and Folkh\u00e4lsan Institute of Genetics Helsinki Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gen","family":"Nishimura","sequence":"additional","affiliation":[{"name":"Department of Radiology Osaka Medical Center &amp; Research Institute for Maternal and Child Health Osaka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ann","family":"Nordgren","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Surgery Karolinska Institutet Stockholm Sweden"},{"name":"Department of Clinical Genetics Karolinska University Hospital Stockholm Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Conner","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Karolinska University Hospital Stockholm Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,8,16]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2431-8-8"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.013722"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0900158"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/med\/9780195396089.001.0001"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2006-924458"}],"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.36106","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36106","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T23:00:07Z","timestamp":1696633207000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36106"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,8,16]]},"references-count":5,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2013,10]]}},"alternative-id":["10.1002\/ajmg.a.36106"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36106","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,8,16]]}}}