Proteus Syndrome: Description of Two Clinical Cases

Proteus Syndrome: Description of Two Clinical Cases

Background. Proteus syndrome is extremely rare congenital multisystem disease with high variability in clinical manifestations. Its prevalence is unknown, there are less than 200 cases in the world literature. The syndrome is a classic example of somatic mosaicism, and all target drugs for its manag...

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Main Authors: Tatiana S. Belysheva, Ekaterina E. Zelenova, Nataliya A. Semenova, Elena V. Sharapova, Vera V. Semenova, Garik B. Sagoyan, Ekaterina V. Bychkova, Darya V. Gorodilova, Nikolay N. Murashkin, Ella V. Kumirova, Victoria V. Emtsova, Timur T. Valiev, Tatiana V. Nasedkina, Vladimir V. Strelnikov
Format: Article
Language:English
Published: "Paediatrician" Publishers LLC 2024-11-01
Series:Вопросы современной педиатрии
Subjects:
clinical case
proteus syndrome
akt1 gene
somatic mosaicism
ngs
akt1-inhibitors
mtor-inhibitors
Online Access:https://vsp.spr-journal.ru/jour/article/view/3607
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