Extended clinical and genetic spectrum associated with biallelic RTEL1 mutations

  • Touzot F
  • Kermasson L
  • Jullien L
  • et al.
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Abstract

Biallelic RTEL1 mutations generate a large clinical spectrum ranging from classical Hoyeraal-Hreidarsson syndrome to isolated aplastic anemia.

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Touzot, F., Kermasson, L., Jullien, L., Moshous, D., Ménard, C., Ikincioğullari, A., … Revy, P. (2016). Extended clinical and genetic spectrum associated with biallelic RTEL1 mutations. Blood Advances, 1(1), 36–46. https://doi.org/10.1182/bloodadvances.2016001313

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