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Trichothiodystrophy 4, nonphotosensitive
rareA subtype of trichothiodystrophy caused by mutation(s) in the MPLKIP gene, encoding M-phase-specific PLK1-interacting protein.
- Identifiers
- MONDO:0021013 OMIM:234050Orphanet:75790
- Causal genes
- MPLKIP
- Part of
- Trichothiodystrophy
- Also known as
- MPLKIP nonphotosensitive trichothiodystrophy · nonphotosensitive trichothiodystrophy caused by mutation in MPLKIP · Pollitt syndrome · TTD4
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