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    5 / 1000+ results

      research New clinico‐genetic classification of trichothiodystrophy

      68 citations , August 2009 in “American Journal of Medical Genetics Part A”
      This study systematically reviewed clinical findings in trichothiodystrophy patients and suggested a new clinico-genetic classification to help better understand the ichthyotic phenotype and its management.

      research Trichothiodystrophy in a child with occult learning disorder

      January 2013 in “International Journal of Trichology”
      This case report describes a young girl with trichothiodystrophy and suggests the need for early diagnosis and multidisciplinary interventions for her educational challenges.
      Office Diagnosis of Hair Shaft Defects

      research Office Diagnosis of Hair Shaft Defects

      33 citations , March 2006 in “Seminars in cutaneous medicine and surgery”
      This article illustrates various hair shaft defects and suggests that dermatologists can diagnose most of them using light microscopy and polarization without needing advanced imaging techniques.

      research Myotonic Dystrophy—A Progeroid Disease?

      41 citations , July 2018 in “Frontiers in Neurology”
      This study suggests that myotonic dystrophies may qualify as segmental progeroid disorders due to molecular and clinical similarities with typical progeroid syndromes.

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