{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T11:19:07Z","timestamp":1790680747777,"version":"4.1.0"},"reference-count":8,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2014,11,25]],"date-time":"2014-11-25T00:00:00Z","timestamp":1416873600000},"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":[[2015,1]]},"abstract":"<jats:sec><jats:label\/><jats:p>COL4A1\u2010associated disorders encompass a wide range of hereditary vasculopathy, including porencephaly and HANAC (adult\u2010onset hemorrhagic stroke with cerebral aneurysm and retinal arterial tortuosity, renal cysts, and thenar muscle cramp). It remains elusive whether or not porencephaly and HANAC are molecularly distinctive disorders due to different classes of mutations. We report on a girl with porencephaly and an episode of microangiopathic hemolysis in infancy and her father with HANAC, both of whom had a heterozygous missense mutation of <jats:italic>COL4A1<\/jats:italic> (c.3715G&gt;A, p.G1239R). The current observation implies phenotypic diversities of <jats:italic>COL4A1<\/jats:italic> mutations. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36823","type":"journal-article","created":{"date-parts":[[2014,11,25]],"date-time":"2014-11-25T20:54:08Z","timestamp":1416948848000},"page":"156-158","source":"Crossref","is-referenced-by-count":25,"title":["Porencephaly in a fetus and HANAC in her father: Variable expression of <i>COL4A1<\/i> mutation"],"prefix":"10.1002","volume":"167","author":[{"given":"Toshiki","family":"Takenouchi","sequence":"first","affiliation":[{"name":"Department of Pediatrics Keio University School of Medicine Tokyo Japan"},{"name":"Center for Medical Genetics Keio University School of Medicine Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masaki","family":"Ohyagi","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine Tokyo Metropolitan Bokutoh Hospital Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiharu","family":"Torii","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Keio University School of Medicine Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rika","family":"Kosaki","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics National Center for Child Health and Development Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takao","family":"Takahashi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Keio University School of Medicine Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenjiro","family":"Kosaki","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Keio University School of Medicine Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,11,25]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1109418"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa053727"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.137.5.1185"},{"key":"e_1_2_8_5_1","first-page":"p345","volume-title":"Chapter 12 The molecular, biochemical, and cellular basis of genetic disease. 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