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...

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Detalles Bibliográficos
Autores principales: Nadiri, Mehdi, Raeisi, Mortaza, Mousavi Aghdas, Seyed Ali
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5832095/
https://www.ncbi.nlm.nih.gov/pubmed/29666741
http://dx.doi.org/10.1155/2018/5928231

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