Trichothiodystrophy
January 2008
Research cited in this study
6 / 6 resultsresearch Structural and Molecular Hair Abnormalities in Trichothiodystrophy
TTD hair brittleness is caused by multiple structural abnormalities.
research Conformational Differences in Protein Disulfide Linkages Between Normal Hair and Hair From Subjects With Trichothiodystrophy: A Quantitative Analysis by Raman Microspectroscopy
TTD hair is brittle due to fewer sulfur amino acids and unstable disulfide bonds.
research A Mouse Model for the Basal Transcription and DNA Repair Syndrome Trichothiodystrophy
Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
research High-Sulfur Protein Deficient Human Hair: Clinical Aspects and Biochemical Study of Two Unreported Cases of a Variant Type of Trichothiodystrophy
Two patients had a unique form of trichothiodystrophy with reduced high-sulfur proteins in their hair.
research Lamellar Ichthyosis, Dwarfism, Mental Retardation, and Hair Shaft Abnormalities
A new syndrome may link skin, growth, mental, and hair issues.