A second hit somatic (p.R905W) and a novel germline intron-mutation of TSC2 gene is found in intestinal lymphangioleiomyomatosis: a case report with literature review

• Main Authors: Bogyeong Han (Author), Juhwan Lee (Author), Yoon Jin Kwak (Author), Hyun-Young Kim (Author), Kwang Hoon Lee (Author), Yumi Shim (Author), Hyunju Lee (Author), Sung-Hye Park (Author)
• Format: Book
• Published: BMC, 2021-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by hamartomas in multiple organs associated with germline mutations in TSC1 and TSC2, including exonic, intronic, or mosaic mutations. Gastrointestinal (GI) tract Lymphangioleiomyomatosis (LAM) is an...