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Article

A Comparison of Clinical and Radiological Presentations of Sporadic and Tuberous Sclerosis Complex-Associated Lymphangioleiomyomatosis.

American journal of medical genetics. Part A - 1 Jan 2025

Savage Taylor E, Geenen Kennedy R, Price Melissa C, El-Chemaly Souheil Y, Henske Elizabeth P, Sharma Amita, Thiele Elizabeth A

Abstract excerpt

This research aims to compare and assess the clinical and radiological presentations of tuberous sclerosis complex (TSC)-associated lymphangioleiomyomatosis (LAM) and sporadic LAM. A retrospective medical record review was conducted for 90 patients with confirmed LAM diagnoses. Radiologists who were blinded to the LAM type evaluated CT images of the chest and abdomen for the presence of four CT phenotypes:...

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PMID: 39243170
DOI: 10.1002/ajmg.a.63871

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