{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,22]],"date-time":"2025-11-22T11:01:55Z","timestamp":1763809315604},"reference-count":9,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2014,3,25]],"date-time":"2014-03-25T00:00:00Z","timestamp":1395705600000},"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":[[2014,6]]},"abstract":"<jats:sec><jats:label \/><jats:p>Adams\u2013Oliver syndrome (AOS; OMIM 100300) typically comprises a combination of congenital scalp defects and terminal transverse limb defects. Recently, mutations in <jats:italic>ARHGAP31<\/jats:italic> and <jats:italic>RBPJ<\/jats:italic> have been found causing autosomal dominant forms of AOS. We describe a four\u2010generation pedigree with isolated terminal limb defects and a truncating mutation in <jats:italic>ARHGAP31<\/jats:italic>. This finding underscores the relevance of sequencing <jats:italic>ARHGAP31<\/jats:italic> in similar cases of isolated limb defects, irrespective of the presence of a complete AOS phenotype. We also highlight the variability of clinical features among mutation carriers, ranging from severe reduction defects to mild as well as clinically unaffected cases suggesting reduced penetrance. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36486","type":"journal-article","created":{"date-parts":[[2014,3,25]],"date-time":"2014-03-25T15:53:15Z","timestamp":1395762795000},"page":"1576-1579","source":"Crossref","is-referenced-by-count":21,"title":["Isolated terminal limb reduction defects: Extending the clinical spectrum of Adams\u2013Oliver syndrome and <i>ARHGAP31<\/i> mutations"],"prefix":"10.1002","volume":"164","author":[{"given":"Mala","family":"Isrie","sequence":"first","affiliation":[{"name":"Center for Human Genetics University Hospitals Leuven, KU Leuven Leuven Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wim","family":"Wuyts","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University and University Hospital of Antwerp Antwerp Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hilde","family":"Van Esch","sequence":"additional","affiliation":[{"name":"Center for Human Genetics University Hospitals Leuven, KU Leuven Leuven Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Koenraad","family":"Devriendt","sequence":"additional","affiliation":[{"name":"Center for Human Genetics University Hospitals Leuven, KU Leuven Leuven Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2014,3,25]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.jhered.a105415"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.07.005"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201649"},{"key":"e_1_2_6_5_1","first-page":"365","article-title":"Primer3 on the WWW for general users and for biologist programmers","volume":"132","author":"Rozen S","year":"2000","journal-title":"Methods Mol Biol"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.07.009"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.02.012"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32708"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.04.013"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0b013e3280f9df22"}],"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.36486","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36486","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T21:35:24Z","timestamp":1696628124000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36486"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,3,25]]},"references-count":9,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2014,6]]}},"alternative-id":["10.1002\/ajmg.a.36486"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36486","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,3,25]]}}}