{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T22:06:45Z","timestamp":1781647605278,"version":"3.54.5"},"reference-count":16,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2017,7,7]],"date-time":"2017-07-07T00:00:00Z","timestamp":1499385600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["5K01ES025435"],"award-info":[{"award-number":["5K01ES025435"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000069","name":"National Institute of Arthritis and Musculoskeletal and Skin Diseases","doi-asserted-by":"publisher","award":["1R01AR064258"],"award-info":[{"award-number":["1R01AR064258"]}],"id":[{"id":"10.13039\/100000069","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,9]]},"abstract":"<jats:sec><jats:label\/><jats:p>Segmental infantile hemangiomas (IH) can be associated with congenital anomalies in a regional distribution. PHACE refers to large cervicofacial segmental IH in association with congenital anomalies of the aortic arch and medium\u2010sized arteries of the head and neck, as well as structural anomalies of the posterior fossa and eye. A subset of PHACE patients have arterial anomalies that progress to moyamoya vasculopathy (MMV). MMV is defined as stenosis of the supraclinoid segment of the internal carotid arteries and\/or their major branches, with subsequent development of a compensatory collateral vessel network. We describe a patient with MMV and segmental IH on the back and lower body who meets diagnostic criteria for PHACE based on a posterior segment eye anomaly and cerebral arterial anomalies. Whole exome sequencing demonstrated two inherited heterozygous variants in <jats:italic>RNF213<\/jats:italic>. Variants in <jats:italic>RNF213<\/jats:italic> are associated with increased susceptibility to MMV. Our findings suggest that <jats:italic>RNF213<\/jats:italic> variants may play a role in the development of MMV in patients with hemangioma syndromes associated with congenital cerebral arterial anomalies.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38258","type":"journal-article","created":{"date-parts":[[2017,7,7]],"date-time":"2017-07-07T14:24:52Z","timestamp":1499437492000},"page":"2557-2561","source":"Crossref","is-referenced-by-count":14,"title":["<i>RNF213<\/i> variants in a child with PHACE syndrome and moyamoya vasculopathy"],"prefix":"10.1002","volume":"173","author":[{"given":"Kala F.","family":"Schilter","sequence":"first","affiliation":[{"name":"Department of Dermatology Medical College of Wisconsin Milwaukee Wisconsin"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jack E.","family":"Steiner","sequence":"additional","affiliation":[{"name":"Department of Dermatology Medical College of Wisconsin Milwaukee 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