{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T04:56:02Z","timestamp":1790571362254,"version":"4.1.0"},"reference-count":5,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2026,6,14]],"date-time":"2026-06-14T00:00:00Z","timestamp":1781395200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,6,14]],"date-time":"2026-06-14T00:00:00Z","timestamp":1781395200000},"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":["Pediatric Dermatology"],"published-print":{"date-parts":[[2026,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Cutis tricolor (CT) is a rare pigmentary mosaicism characterized by the coexistence of hyperpigmented and hypopigmented areas on a background of normal skin; its syndromic form, Ruggieri\u2013Happle syndrome (RHS), is associated with neurodevelopmental delay, facial dysmorphism, skeletal abnormalities, and other systemic defects. We report a 16\u2010year\u2010old girl with molecularly confirmed Mowat\u2013Wilson syndrome caused by a de novo pathogenic\n                    <jats:italic>ZEB2<\/jats:italic>\n                    frameshift variant, who presented with extensive CT\u2010like pigmentary mosaicism and marked phenotypic overlap with RHS. Brain MRI disclosed bilateral microphthalmia, optic nerve hypoplasia, coloboma, a shortened corpus callosum, a brainstem segmentation defect, and inferior vermian hypoplasia. This observation expands the cutaneous phenotype of\n                    <jats:italic>ZEB2<\/jats:italic>\n                    \u2010related disease and suggests possible shared developmental pathways between Mowat\u2013Wilson syndrome and RHS.\n                  <\/jats:p>","DOI":"10.1111\/pde.70294","type":"journal-article","created":{"date-parts":[[2026,6,14]],"date-time":"2026-06-14T23:15:12Z","timestamp":1781478912000},"page":"1247-1249","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Cutis Tricolor\u2010Like Pigmentary Mosaicism in Mowat\u2013Wilson Syndrome: Phenotypic Overlap With Ruggieri\u2013Happle Syndrome"],"prefix":"10.1111","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3815-5417","authenticated-orcid":false,"given":"Didier","family":"Bessis","sequence":"first","affiliation":[{"name":"Department of Dermatology University of Montpellier, Reference Centre for Rare Skin Diseases (MAGEC\u2010Sud), Saint\u2010Eloi Hospital, CHU Montpellier  Montpellier France"},{"name":"INSERM U1058  Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Meyer","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology University of Montpellier, CHU Montpellier  Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2959-0935","authenticated-orcid":false,"given":"Marjolaine","family":"Willems","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of Montpellier, Reference Center for Rare Diseases, Developmental Disorders and Multiple Congenital Anomalies, Arnaud de Villeneuve Hospital, CHU Montpellier  Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,6,14]]},"reference":[{"key":"e_1_2_1_10_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.8.676"},{"key":"e_1_2_1_10_3_1","doi-asserted-by":"publisher","DOI":"10.21037\/qims.2016.10.14"},{"key":"e_1_2_1_10_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.221"},{"key":"e_1_2_1_10_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20053"},{"key":"e_1_2_1_10_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.2010.18633836"}],"container-title":["Pediatric Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.70294","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/pde.70294","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/pde.70294","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T04:25:08Z","timestamp":1790569508000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/pde.70294"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6,14]]},"references-count":5,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2026,9]]}},"alternative-id":["10.1111\/pde.70294"],"URL":"https:\/\/doi.org\/10.1111\/pde.70294","archive":["Portico"],"relation":{},"ISSN":["0736-8046","1525-1470"],"issn-type":[{"value":"0736-8046","type":"print"},{"value":"1525-1470","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,6,14]]},"assertion":[{"value":"2026-03-18","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-05-26","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-06-14","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}