{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T17:17:55Z","timestamp":1783012675459,"version":"3.54.6"},"reference-count":10,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2026,4,5]],"date-time":"2026-04-05T00:00:00Z","timestamp":1775347200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,4,5]],"date-time":"2026-04-05T00:00:00Z","timestamp":1775347200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Grange syndrome, caused by biallelic loss\u2010of\u2010function variants in\n                    <jats:italic>YY1AP1<\/jats:italic>\n                    , is characterized by multivascular stenoses, renovascular hypertension, brachydactyly, syndactyly, and mild cognitive impairment. Although\n                    <jats:italic>RNF213<\/jats:italic>\n                    variants are typically associated with Moyamoya disease and systemic arterial stenosis, evidence suggests that pathogenic\n                    <jats:italic>RNF213<\/jats:italic>\n                    variants may contribute to a broader vascular phenotype. We describe a 15\u2010year\u2010old girl with Moyamoya vasculopathy presenting with bilateral renal artery stenosis, brachydactyly, and intellectual disability. Her history included left\u2010arm weakness and seizures at 10\u2009months of age. She underwent surgical revascularization at 1.5 and 3\u2009years of age for Moyamoya disease. Upon evaluation for hypertension, the patient was diagnosed with bilateral renal artery stenosis. Physical examination revealed dysmorphic features including deep\u2010set eyes, up slanting palpebral fissures, a broad nasal bridge, low\u2010set, posteriorly rotated ears, a broad left thumb, brachydactyly, and syndactyly of the toes. Whole\u2010exome sequencing was negative; trio whole\u2010genome sequencing identified a de novo, likely pathogenic\n                    <jats:italic>RNF213<\/jats:italic>\n                    variant (c.12341C\u2009&gt;\u2009G). This case expands the phenotypic spectrum associated with\n                    <jats:italic>RNF213<\/jats:italic>\n                    variants, presenting a Grange\u2010like phenotype. Our study highlights\n                    <jats:italic>RNF213<\/jats:italic>\n                    as a candidate gene for such phenotypes. A negative\n                    <jats:italic>YY1AP1<\/jats:italic>\n                    result does not exclude a Grange\u2010like phenotype, emphasizing the need for comprehensive genetic testing and early vascular surveillance.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.70158","type":"journal-article","created":{"date-parts":[[2026,4,6]],"date-time":"2026-04-06T04:20:47Z","timestamp":1775449247000},"page":"1923-1928","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Grange\u2010Like Phenotype Associated With an\n                    <scp>\n                      <i>RNF213<\/i>\n                    <\/scp>\n                    Pathogenic Variant: Expanding the Vasculopathy Spectrum"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-6970-1436","authenticated-orcid":false,"given":"Serife Ozturk","family":"Yilmaz","sequence":"first","affiliation":[{"name":"Faculty of Medicine, Department of Pediatric Genetics Dokuz Eyl\u00fcl University  \u0130zmir T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayca","family":"Yigit","sequence":"additional","affiliation":[{"name":"Izmir Biomedicine and Genome Center  \u0130zmir T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6438-2015","authenticated-orcid":false,"given":"Sevcan","family":"Hatipoglu","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Department of Pediatric Nephrology Dokuz Eyl\u00fcl University  \u0130zmir T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6795-3012","authenticated-orcid":false,"given":"Semra","family":"Gursoy","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Department of Pediatric Genetics Dokuz Eyl\u00fcl University  \u0130zmir T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9333-651X","authenticated-orcid":false,"given":"Aytac","family":"Gulcu","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Department of Radiology Dokuz Eyl\u00fcl University  \u0130zmir T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3559-1918","authenticated-orcid":false,"given":"Tuncer","family":"Turhan","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Retired Faculty Member, Department of Neurosurgery Ege University  \u0130zmir T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0515-2858","authenticated-orcid":false,"given":"Mert","family":"Pekerbas","sequence":"additional","affiliation":[{"name":"Izmir Biomedicine and Genome Center  \u0130zmir T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5901-7398","authenticated-orcid":false,"given":"Alper","family":"Soylu","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Department of Pediatric Nephrology Dokuz Eyl\u00fcl University  \u0130zmir T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5319-0547","authenticated-orcid":false,"given":"Ugur","family":"Ozbek","sequence":"additional","affiliation":[{"name":"Izmir Biomedicine and Genome Center  \u0130zmir T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1455-308X","authenticated-orcid":false,"given":"Ozlem Giray","family":"Bozkaya","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Department of Pediatric Genetics Dokuz Eyl\u00fcl University  \u0130zmir T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,4,5]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12975\u2010019\u201000743\u20106"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1161\/STROKEAHA.114.006244"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/CM9.0000000000002985"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980217)75:5<469::AID-AJMG4>3.0.CO;2-I"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.11.008"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2010.132"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1159\/000527785"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1272\/jnms.JNMS.2024_91\u2010215"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000011653"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.60700"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.70158","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.70158","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.70158","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T16:29:41Z","timestamp":1783009781000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.70158"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,4,5]]},"references-count":10,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2026,8]]}},"alternative-id":["10.1002\/ajmg.a.70158"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.70158","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,4,5]]},"assertion":[{"value":"2025-10-31","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-03-30","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-04-05","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}