The case of 17-year-old male with LEOPARD syndrome

LEOPARD syndrome is a phenotypic expression of mutations in several genes: PTPN11, RAF1, and BRAF. All these genes are responsible for Ras/MARK signaling pathway, which are important for cell cycle regulation, differentiation, growth, and aging. Mutations result in anomalies of skin, skeletal, and c...

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Опубликовано в: :J Cardiol Cases
Главные авторы: Dzemeshkevich, Sergey, Frolova, Julia, Betekhtin, Mikhail, Shapieva, Albina, Rizun, Lyubov
Формат: Artigo
Язык:Inglês
Опубликовано: Japanese College of Cardiology 2012
Предметы:
Case Report
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC6275374/
https://ncbi.nlm.nih.gov/pubmed/30533116
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jccase.2012.10.006
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