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- Title
Severe bleeding complications and multiple kidney transplants in a patient with tuberous sclerosis complex caused by a novel TSC2 missense variant.
- Authors
Živčić-Ćosić, Stela; Mayer, Karin; Đorđević, Gordana; Nellist, Mark; Hoogeveen-Westerveld, Marianne; Miletić, Damir; Rački, Sanjin; Klein, Hanns-Georg; Trobonjača, Zlatko
- Abstract
A case study is presented of a female patient presented with bleeding complications and multiple kidney transplants. Pathological analysis of tissues revealed tuberous sclerosis complex associated lesions; molecular genetic analysis of TSC1 and TSC2 was presented; and analysis of pathogenicity of the tuberous sclerosis complex 2 protein.
- Subjects
HEMORRHAGE; KIDNEY transplantation; TUBEROUS sclerosis; MOLECULAR genetics; HAMARTIN
- Publication
Croatian Medical Journal, 2017, Vol 58, Issue 6, p416
- ISSN
0353-9504
- Publication type
Case Study
- DOI
10.3325/cmj.2017.58.416