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Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations
Trichothiodystrophy (TTD) is a rare, autosomal recessive disease, characterised by brittle, sulfur deficient hair and multisystem abnormalities. A systematic literature review identified 112 patients ranging from 12 weeks to 47 years of age (median 6 years). In addition to hair abnormalities, common...
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| Auteurs principaux: | , , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
2008
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3459585/ https://ncbi.nlm.nih.gov/pubmed/18603627 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2008.058743 |
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