7 citations
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March 2004 in “Journal of the American Academy of Dermatology” Tiger tail banding and hair abnormalities are reliable indicators for diagnosing trichothiodystrophy.
35 citations
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September 2003 in “Archives of dermatology” This study proposed that the tiger tail phenomenon in trichothiodystrophy hair is caused by regular undulations of hair fibers, altering the optical properties seen under polarized light.
April 2017 in “Journal of Investigative Dermatology” In this study, deep phenotyping of 68 patients with XPD gene defects successfully separated individuals by clinical diagnosis and survival status, potentially improving diagnosis and prognosis for xeroderma pigmentosum and trichothiodystrophy.
April 2012 in “Neuropediatrics” This article reviews the genetic and phenotypic characteristics of Trichothiodystrophy and discusses the associated DNA repair defects, but does not report new clinical findings.
2 citations
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July 2025 in “Drug development & registration” This study developed and tested a new algorithm for analyzing coat and skin coloration in laboratory animals, using digital images and hierarchical color clustering, which effectively quantified color proportions and tracked changes over time without specialized software.