Condition: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3


rs121918543 in TINF2 gene and DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3 PMID 18252230 2008 TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita.

PMID 29483670 2018 Novel variants in Nordic patients referred for genetic testing of telomere-related disorders.