Condition: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2


rs121918665 in TERT gene and DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 PMID 21602826 2011 Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells.

PMID 15885610 2005 Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure.

PMID 16247010 2005 Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita.

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