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Article

Facial clues to the photosensitive trichothiodystrophy phenotype in childhood.

Journal of human genetics - 1 Jun 2023

Pascolini Giulia, Gaudioso Federica, Baldi Marina, Alario Dario, Dituri Francesco, Novelli Antonio, Baban Anwar

Abstract excerpt

Among genodermatoses, trichothiodystrophies (TTDs) are a rare genetically heterogeneous group of syndromic conditions, presenting with skin, hair, and nail abnormalities. An extra-cutaneous involvement (craniofacial district and neurodevelopment) can be also a part of the clinical picture. The presence of photosensitivity describes three forms of TTDs: MIM#601675 (TTD1), MIM#616390 (TTD2) and MIM#616395 (TTD3),...

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PMID: 36810639
DOI: 10.1038/s10038-023-01134-4

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