Article

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

2021-03-18

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> Tuberous sclerosis complex (TSC) is an autosomal dominant disorder associated with germline mutations in <italic>TSC1</italic> and <italic>TSC2, </italic>including exonic, intronic, or mosaic mutations. Gastrointestinal (GI) tract Lymphangioleiomyomatosis (LAM) is an extremely rare manifestation of TSC, with few reported cases. Herein, we aimed to determine the...

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Literature Corpus work: da670426-7f28-594c-a50e-7ae08fc9f3dd
DOI: 10.21203/rs.3.rs-333527/v1

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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 ReviewDOI 10.21203/rs.3.rs-333527/v1Read

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