ArticleMolecular genetics & genomic medicine2024
The face of Non-photosensitive trichothiodystrophy phenotypic spectrum: A subsequent study on paediatric population.
Article in Molecular genetics & genomic medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- An Artificial Intelligence Approach to the Craniofacial Recapitulation of Crisponi/Cold-Induced Sweating Syndrome 1 (CISS1/CISS) from Newborns to Adolescent Patients.Diagnostics (Basel, Switzerland) · 2025Article
- The face of Non-photosensitive trichothiodystrophy phenotypic spectrum: A subsequent study on paediatric population.Molecular genetics & genomic medicine · 2024Article
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Authors and funding
6 authors.
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Abstract
backgroundNon-photosensitive trichothiodystrophies (TTDs) are a diverse group of genodermatoses within the subset of conditions known as "sulphur-deficient brittle hair" 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.
methodsA total of 26 facial portraits of TTD paediatric patients with Non-photosensitivity from the literature were analysed using computer-aided technologies, and their facial features were examined through a detailed clinical review.
resultsDistinct facial features were identified in both Photosensitive and Non-photosensitive TTDs.
conclusionThe present study has comprehensively elucidated the facial features in TTDs, encompassing the Non-photosensitive clinical spectrum.
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