A Rare Heterozygous TINF2 Deletional Frameshift Mutation in a Chinese Pedigree With a Spectrum of TBDs Phenotypes
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DOI: 10.3389/fgene.2022.913133
Abstract: Telomere biology disorders (TBDs) induced by TINF2 mutations manifest clinically with a spectrum of phenotypes, from silent carriers to a set of overlapping conditions. A rare TINF2 frameshift mutation (c.591delG) encoding a truncated mutant TIN2… read more here.
Keywords: tinf2; mutant tin2; mutation; tbds ... See more keywords