Human genes for Ruijs-Aalfs syndrome
Ruijs-Aalfs syndrome [DOID:0111264]
A syndrome characterized by genomic instability and susceptibility toward early onset hepatocellular carcinoma that has_material_basis_in homozygous or compound heterozygous mutation in SPRTN on 1q42.2.
Synonyms: Ruijs-Aalfs syndrome, DOID:0111264, RuijsAalfs syndrome, Ruijs-Aalfs disease, Ruijs-Aalfs disorder ...