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Seyyed Mohammad Kahani

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Articles

Trichothiodystrophy due to ERCC2 Variants: Uncommon Contributor to Progressive Hypomyelinating Leukodystrophy

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By Ali Reza Tavasoli, Maedeh Ganji, Arastoo Kaki, Seyyed Mohammad Kahani
| Wiley Online Library Verified
1 Introduction Trichothiodystrophy (TTD) (OMIM #601675) is a rare genetic disorder which is characterized by brittle hair due to a deficiency in sulfur and cysteine, leading to a condition known as Trichoschisis (Itin, Sarasin, and Pittelkow 2001). When observed under polarized light microscopy, the hair displays alternating dark and light bands, referred to as ‘tiger tail banding’ (Liang et al. 2005).
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