{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,2]],"date-time":"2026-08-02T16:27:09Z","timestamp":1785688029799,"version":"3.56.0"},"reference-count":40,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2024,8,9]],"date-time":"2024-08-09T00:00:00Z","timestamp":1723161600000},"content-version":"vor","delay-in-days":8,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Non\u2010photosensitive trichothiodystrophies (TTDs) are a diverse group of genodermatoses within the subset of conditions known as \u201csulphur\u2010deficient brittle hair\u201d syndromes. A part of them has only recently been identified, revealing novel causative genes and very rare phenotypes of these genetic skin disorders. At the same time, the molecular basis of previously published and unresolved cases has been revealed through the introduction of innovative genetic techniques. We have previously described the facial phenotype of patients with the Photosensitive form of TTD during childhood. This study marks the beginning of an effort to expand the analysis to include individuals of the same age who do not have photosensitivity.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A total of 26 facial portraits of TTD paediatric patients with Non\u2010photosensitivity from the literature were analysed using computer\u2010aided technologies, and their facial features were examined through a detailed clinical review.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Distinct facial features were identified in both Photosensitive and Non\u2010photosensitive TTDs.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The present study has comprehensively elucidated the facial features in TTDs, encompassing the Non\u2010photosensitive clinical spectrum.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2501","type":"journal-article","created":{"date-parts":[[2024,8,9]],"date-time":"2024-08-09T07:16:22Z","timestamp":1723187782000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["The face of Non\u2010photosensitive trichothiodystrophy phenotypic spectrum: A subsequent study on paediatric population"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2440-7441","authenticated-orcid":false,"given":"Giulia","family":"Pascolini","sequence":"first","affiliation":[{"name":"Genetic Counselling Service Istituto Dermopatico dell'Immacolata, IDI\u2010IRCCS  Rome Italy"},{"name":"Rare Skin Diseases Center Istituto Dermopatico dell'Immacolata, IDI\u2010IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martina","family":"Lipari","sequence":"additional","affiliation":[{"name":"Precision Medicine and Pharmacogenomics Unit Sandro Pertini Hospital  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federica","family":"Gaudioso","sequence":"additional","affiliation":[{"name":"Medical Genetics Division Foundation IRCCS C\u00e0 Granda Ospedale Maggiore Policlinico  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luca","family":"Fania","sequence":"additional","affiliation":[{"name":"Dermatology Clinic Istituto Dermopatico dell'Immacolata, IDI\u2010IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Di\u00a0Zenzo","sequence":"additional","affiliation":[{"name":"Molecular and Cell Biology Laboratory Istituto Dermopatico dell'Immacolata, IDI\u2010IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Biagio","family":"Didona","sequence":"additional","affiliation":[{"name":"Genetic Counselling Service Istituto Dermopatico dell'Immacolata, IDI\u2010IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,8,9]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1159\/000247345"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32612"},{"key":"e_1_2_11_4_1","first-page":"219","article-title":"A syndrome manifested by brittle hair with morphologic and biochemical abnormalities, developmental delay and normal stature","volume":"12","author":"Arbisser A. 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