{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T09:06:31Z","timestamp":1762506391373},"reference-count":15,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2014,6,26]],"date-time":"2014-06-26T00:00:00Z","timestamp":1403740800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"National Commission for Scientific and Technological of the Chilean Government (CONICYT)","award":["Fondecyt # 1111020","Fondecyt # 1110159"],"award-info":[{"award-number":["Fondecyt # 1111020","Fondecyt # 1110159"]}]},{"name":"Cl\u00ednica Las Condes Chile","award":["PI2012-DA017"],"award-info":[{"award-number":["PI2012-DA017"]}]},{"name":"Italian Ministry of Health"},{"name":"Office of International Activities of the Bambino Gesu' Children's Research Hospital"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,9]]},"abstract":"<jats:sec><jats:label \/><jats:p>Congenital unilateral overgrowth of the upper extremity affecting only the muscle tissue is rare. We describe on the clinical, histopathological, and neuroimaging findings in a 6\u2010year\u2010old girl with a congenital, non\u2010progressive muscle enlargement of the entire left upper limb with an ipsilateral hand deformity. No cutaneous stigmata or additional features were detected. Sanger sequencing for the <jats:italic>AKT1<\/jats:italic>, <jats:italic>PIK3CA<\/jats:italic>, and <jats:italic>PTEN<\/jats:italic> genes identified an activating c.3140A&gt;G, p.H1047R mutation in the <jats:italic>PIK3CA<\/jats:italic> gene from the affected muscle DNA. We demonstrate that isolated congenital muscular upper limb overgrowth with aberrant hand muscles is another condition related genetically to the <jats:italic>PIK3CA<\/jats:italic>\u2010related overgrowth spectrum. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36651","type":"journal-article","created":{"date-parts":[[2014,6,26]],"date-time":"2014-06-26T19:55:09Z","timestamp":1403812509000},"page":"2365-2369","source":"Crossref","is-referenced-by-count":17,"title":["Activating <i>PIK3CA<\/i> somatic mutation in congenital unilateral isolated muscle overgrowth of the upper extremity"],"prefix":"10.1002","volume":"164","author":[{"given":"Claudia","family":"Castiglioni","sequence":"first","affiliation":[{"name":"Unit of Neurology Dept. of Pediatrics Cl\u00ednica Las Condes Santiago Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Enrico","family":"Bertini","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular 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