213 top medical experts on Trichothiodystrophy Syndromes across 25 countries and 13 U.S. states, including 35 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Trichothiodystrophy Syndromes: Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility, and short stature. It may include nail dystrophy, ichthyosis, and photosensitivity correlated with a nucleotide excision repair defect. All individuals with this disorder have a deficiency of cysteine-rich keratin-associated proteins found in the interfilamentous matrix. Photosensitive trichothiodystrophy can be caused by mutation in at least 2 separate genes: ercc2 protein gene and the related ercc3. Nonphotosensitive trichothiodystrophy can be caused by mutation in the ttdn1 gene.
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Broader Categories (#Experts): Genetic Skin Diseases (3,548), Multiple Abnormalities (3,208), Skin Abnormalities (2,933).
  4. Clinical Trials ClinicalTrials.gov : at least 1 including 1 Recruiting


  

        

                    


    Computing Expert Listing ...

);