Dyskeratosis Congenita, Autosomal Dominant 1 (DKCA1)

Dyskeratosis Congenita, Autosomal Dominant 1, also known as dyskeratosis congenita, scoggins type, is related to dyskeratosis congenita, autosomal recessive 3 and dyskeratosis congenita, autosomal dominant 2. An important gene associated with Dyskeratosis Congenita, Autosomal Dominant 1 is TERC (Telomerase RNA Component), and among its related pathways/superpathways are Cell Cycle, Mitotic and Chromosome Maintenance. Affiliated tissues include bone marrow and skin, and related phenotypes are increased mean corpuscular volume and reticular hyperpigmentation