1.
Case Rep Dermatol
; 7(2): 212-9, 2015.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26351433
RESUMO
Dyskeratosis congenita (DKC) is a rare inherited disease that is characterized by abnormal skin pigmentation, nail dystrophy and mucosal leukoplakia. DKC is caused by an abnormality in a component of the telomerase and shelterin complexes. TINF2 encodes a protein in the shelterin complex and TERC encodes a component of the telomerase complex. Mutations of both genes have been associated with DKC. This study examined mutations in TINF2.