Ruijs-Aalfs syndrome

Definition:

Ruijs-Aalfs syndrome is characterized by early onset hepatocellular carcinoma, genomic instability and progeroid features. It has been reported that mutations in SPRTN cause this disease.

References:

[1]. Davor Lessel, et al. Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features. Nat Genet. 2014 Nov;46(11):1239-44. [Content Brief]

[2]. M W G Ruijs, et al. Atypical progeroid syndrome: an unknown helicase gene defect?. Am J Med Genet A. 2003 Jan 30;116A(3):295-9. [Content Brief]

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