Lymphedema in tuberous sclerosis complex

Author:

Geffrey Alexandra L.1,Shinnick Julianna E.1,Staley Brigid A.1,Boronat Susana12,Thiele Elizabeth A.1

Affiliation:

1. Department of Neurology; Massachusetts General Hospital; Boston Massachusetts

2. Department of Pediatric Neurology; Vall d'Hebron Hospital, Universitat Autònoma de Barcelona; Barcelona Spain

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference28 articles.

1. A novel VEGFR3 mutation causes Milroy disease;Butler;Am J Med Genet A,2007

2. A new classification system for primary lymphatic dysplasias based on phenotype;Connell;Clin Genet,2010

3. A case of Bourneville's tuberous sclerosis with elephantiasis (caused by lymphedema) of the left leg;Cottafava;Minerva Pediatr,1986

4. mTOR inhibitors in tuberous sclerosis complex;Curatolo;Curr Neuropharmacol,2012

5. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs;Dabora;Am J Hum Genet,2001

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1. Tuberous sclerosis complex combined with primary lymphedema: A case report;World Journal of Clinical Cases;2024-05-26

2. Tuberous sclerosis associated with congenital lymphedema;Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics);2024-01-13

3. Dermatological and genetic data in tuberous sclerosis: A prospective single-center study of 38 patients;Annales de Dermatologie et de Vénéréologie;2022-12

4. Prevalence of thoracoabdominal imaging findings in tuberous sclerosis complex;Orphanet Journal of Rare Diseases;2022-03-15

5. Beyond Protein Synthesis; The Multifaceted Roles of Tuberin in Cell Cycle Regulation;Frontiers in Cell and Developmental Biology;2022-01-14

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