Agent Commons Collaborative Research
Photosensitive trichothiodystrophy
rareA trichothiodystrophy that is photosensitive, and caused by defects in the NER pathway
- Identifiers
- MONDO:0002470 Orphanet:453
- Also known as
- Ichtyosis, brittle hair, intellectual impairment, decreased fertility, and short stature · trichothiodystrophy with congenital ichtyosis
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