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Trichothiodystrophy (TTD) describes a group of rare genetic disorders of DNA repair, characterized by sulphur‐deficient hair, skin anomalies and systemic complications like preterm delivery, neurological impairment, haematological and ophthalmological abnormalities… Click to show full abstract
Trichothiodystrophy (TTD) describes a group of rare genetic disorders of DNA repair, characterized by sulphur‐deficient hair, skin anomalies and systemic complications like preterm delivery, neurological impairment, haematological and ophthalmological abnormalities and life‐threatening infections.
Keywords:
siblings severe;
mutations two;
trichothiodystrophy;
two siblings;
severe trichothiodystrophy;
ercc2 mutations
Journal Title: Journal of the European Academy of Dermatology and Venereology
Year Published: 2019
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Journal Title: Journal of the European Academy of Dermatology and Venereology
Year Published: 2019
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!