Trichothiodystrophy: A rare association of brittle hair, ichthyosis, and epilepsy

• Main Authors: G S Asha (Author), Tapasya S Kini (Author), K S Chandan (Author), P Mahanthesh (Author)
• 格式: 圖書
• 出版: Wolters Kluwer Medknow Publications, 2018-01-01T00:00:00Z.
• 主題: article
• 在線閱讀: Connect to this object online.

Trichothiodystrophy (TTD) is a rare autosomal recessive genetic disorder characterized by abnormal synthesis of sulfur-containing keratins and consequently hair dysplasia, associated with numerous symptoms affecting mainly organs derived from the neuroectoderm. The deficiency of cysteine and methion...