{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T02:36:08Z","timestamp":1789180568487,"version":"build-2803163510"},"reference-count":6,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2016,9,8]],"date-time":"2016-09-08T00:00:00Z","timestamp":1473292800000},"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":[[2016,12]]},"abstract":"<jats:sec><jats:label\/><jats:p>Aicardi\u2013Gouti\u00e8res syndrome (AGS) is classically characterized by early\u2010onset encephalopathy. However, in some cases, the presenting symptom of concern may actually be cutaneous rather than neurological, leading to the misdiagnosis of the condition. We report the case of three teenage siblings who presented with a lifetime history of chilblain lesions, only one of whom had notable neurologic deficits. Additional findings included acrocyanosis, Raynaud's phenomenon, low\u2010pitch hoarse voice, headache, and arthritis. They were found to have two pathogenic sequence variants in the <jats:italic>SAMHD1<\/jats:italic> gene: a c.602T&gt;A substitution resulting in p.Ile201Asn protein change, previously reported as a pathogenic mutation, as well as a deletion c.719delT which has not been previously reported but results in a predicted pathogenic frame shift mutation. It is important to consider the diagnosis of AGS in patients and families with chilblain lesions in the presence of unexplained neurologic and rheumatic symptoms. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37944","type":"journal-article","created":{"date-parts":[[2016,9,8]],"date-time":"2016-09-08T12:15:37Z","timestamp":1473336937000},"page":"3308-3312","source":"Crossref","is-referenced-by-count":16,"title":["The importance of chilblains as a diagnostic clue for mild Aicardi\u2013Gouti\u00e8res syndrome"],"prefix":"10.1002","volume":"170","author":[{"given":"Kevin","family":"Yarbrough","sequence":"first","affiliation":[{"name":"Department of Dermatology Oregon Health and Science University Portland Oregon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Calida","family":"Danko","sequence":"additional","affiliation":[{"name":"School of Medicine Oregon Health and Science University Portland Oregon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alfons","family":"Krol","sequence":"additional","affiliation":[{"name":"Department of Dermatology Oregon Health and Science University Portland Oregon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan","family":"Zonana","sequence":"additional","affiliation":[{"name":"Department of Molecular and Medical Genetics Oregon Health and Science University Portland Oregon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabra","family":"Leitenberger","sequence":"additional","affiliation":[{"name":"Department of Dermatology Oregon Health and Science University Portland Oregon"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,9,8]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36887"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33359"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature10623"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2013.04.020"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/513443"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1014265108"}],"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.37944","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37944","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37944","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T01:41:45Z","timestamp":1696642905000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37944"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,9,8]]},"references-count":6,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2016,12]]}},"alternative-id":["10.1002\/ajmg.a.37944"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37944","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,9,8]]}}}