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Article

The face of Non-photosensitive trichothiodystrophy phenotypic spectrum: A subsequent study on paediatric population.

Molecular genetics & genomic medicine - 1 Aug 2024

Pascolini Giulia, Lipari Martina, Gaudioso Federica, Fania Luca, Di Zenzo Giovanni, Didona Biagio

Abstract excerpt

BACKGROUND: Non-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...

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PMID: 39118464
DOI: 10.1002/mgg3.2501
PMCID: PMC11310551

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