Hoyeraal-Hreidarsson syndrome

Evidence-based neurology checklist on hoyeraal-hreidarsson syndrome: Frequent germline mutations DKC1 TERT TINF2 RTEL1 ACD PARN Features of dyskeratosis congenita (DC) Neurological features Systemic features Radiological features Treatment

Frequent germline mutations

  • DKC1
  • TERT
  • TINF2
  • RTEL1
  • ACD
  • PARN 

Features of dyskeratosis congenita (DC)

Neurological features

Systemic features

Radiological features

Treatment

References

  1. Glousker G, Touzot F, Revy P, Tzfati Y, Savage SA. Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder. Br J Haematol 2015; 170:457-471. 
  2. Burris AM, Ballew BJ, Kentosh JB, et al. Hoyeraal-Hreidarsson syndrome due to PARN mutations: fourteen years of follow-up. Pediatr Neurol 2016; 56:62-68.e1.

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