A Novel Mutation in TSC2 Gene: A 34-Year-Old Female with Pulmonary Lymphangioleiomyomatosis with Concomitant Hepatic Lesions
Tuberous sclerosis complex (TSC) is an autosomal dominant disease resulting from mutation(s) in TSC1 or TSC2 genes. TSC is associated with the formation of hamartomas in the brain, heart, eyes, skin, kidneys, and lymphangioleiomyomatosis (LAM) of the lungs. LAM is almost restricted to women in repro...
Main Authors: | , , |
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Format: | Article |
Language: | English |
Published: |
Hindawi Limited
2018-01-01
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Series: | Case Reports in Pulmonology |
Online Access: | http://dx.doi.org/10.1155/2018/5928231 |