TSC1 intragenic deletion transmitted from a mosaic father to two siblings with cardiac rhabdomyomas: Identification of two aberrant transcripts.
Sign Up to like & getrecommendations! Published in 2020 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2020.104060
Abstract: Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder characterized by non-cancerous tumors in multiple organs including the brain, kidney, lung, heart, and skin. We encountered a Japanese family consisting of two siblings (a… read more here.
Keywords: two aberrant; aberrant transcripts; deletion; cardiac rhabdomyomas ... See more keywords