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Results 1 - 2 of 2 for "Hoyeraal-Hreidarsson" syndrome
  1. TERT gene 
    ... homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome. Blood. 2007 Dec 15;110(13):4198-205. ...
    https://medlineplus.gov/genetics/gene/tert - Genetics
  2. Dyskeratosis congenita 
    ... Villartay JP, Revy P. Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability. Hum Mol ...
    https://medlineplus.gov/genetics/condition/dyskeratosis-congenita - Genetics