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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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Bibliographic Details
Main Authors: Faghri, S, Tamura, D, Kraemer, K H, DiGiovanna, J J
Format: Artigo
Language:Inglês
Published: 2008
Subjects:
Online Access: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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