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References OMIM Gene GeneReviews HGMD HGNC
last update : 05-04-2016
Symbol TTDRP
Location 8p12
Name DNA Repair-Proficient Trichothiodystrophy
Corresponding gene GTF2E2
Main clinical features
  • non-photosensitive children with TTD, hair tiger-tail banding, short stature
  • microcephaly, developmental delay, happy personality
  • Genetic determination autosomal recessive
    Function/system disorder dermatology
    mental retardation
    Type disease
  • importance of the direct interaction betweenGTF2H and GTF2E in the transcription process leading to a TTD clinical phenotype (PMID: 26996949))