{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T01:42:38Z","timestamp":1778636558871,"version":"3.51.4"},"reference-count":19,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2022,2,17]],"date-time":"2022-02-17T00:00:00Z","timestamp":1645056000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100007475","name":"Canadian Dermatology Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007475","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Dermatology"],"published-print":{"date-parts":[[2022,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:italic>RHOA<\/jats:italic>\u2010related neuroectodermal syndrome is characterised by linear skin hypopigmentation along Blaschko's lines associated with alopecia, leukoencephalopathy, facial and limb hypoplasia, and ocular, dental, and acral anomalies. Herein, we report a patient with patterned cutaneous hypopigmentation with a similar phenotype due to a novel postzygotic <jats:italic>RHOA<\/jats:italic> variant (c.210G&gt;T; p.Arg70Ser). This illustrates that the complexity of the orchestration of morphogenesis and organogenesis can be affected by different variants in the same gene.<\/jats:p>","DOI":"10.1111\/pde.14923","type":"journal-article","created":{"date-parts":[[2022,2,18]],"date-time":"2022-02-18T05:34:32Z","timestamp":1645162472000},"page":"281-287","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["A novel pathogenic <i>RHOA<\/i> variant in a patient with patterned cutaneous hypopigmentation associated with extracutaneous findings"],"prefix":"10.1111","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5611-2293","authenticated-orcid":false,"given":"Zhuo Ran","family":"Cai","sequence":"first","affiliation":[{"name":"Division of Pediatric Dermatology Department of Pediatrics Sainte\u2010Justine University Hospital Centre University of Montreal  Montreal Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0792-6247","authenticated-orcid":false,"given":"Catherine","family":"McCuaig","sequence":"additional","affiliation":[{"name":"Division of Pediatric Dermatology Department of Pediatrics Sainte\u2010Justine University Hospital Centre University of Montreal  Montreal Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Afshin","family":"Hatami","sequence":"additional","affiliation":[{"name":"Division of Pediatric Dermatology Department of Pediatrics Sainte\u2010Justine University Hospital Centre University of Montreal  Montreal Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean\u2010Baptiste","family":"Rivi\u00e8re","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Faculty of Medicine McGill University  Montreal Canada"},{"name":"Child Health and Human Development Program Research Institute of the McGill University 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