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Article

Lymphangioleiomyomatosis Association with Underlying Genotype in Patients with Tuberous Sclerosis Complex.

Annals of the American Thoracic Society - 1 May 2021

Tian Xinlun, Glass Jennifer E, Kwiatkowski David J, Towbin Alexander J, Li Yinan, Sund Kristen L, Krueger Darcy A, Franz David N, McCormack Francis X, Gupta Nishant

Abstract excerpt

Rationale: Lymphangioleiomyomatosis (LAM) is a female-predominant lung disease caused by mutations in the tuberous sclerosis complex (TSC) genes TSC1 and TSC2.Objectives: To examine the association between TSC mutation subtypes and the prevalence of LAM in women with TSC.Methods: Adult women seen at the Cincinnati Children's Hospital Medical Center's TSC clinic were stratified into the following three groups:...

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Child
TSC1 gene
TSC2 gene
Genotype
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Tuberous Sclerosis

Tuberous Sclerosis Complex Research

Tumor Suppressor Proteins

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Identifiers

PMID: 33171065
DOI: 10.1513/AnnalsATS.202008-911OC

Genes

TSC2
TSC1
NMI

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