Di George syndrome: early diagnosis in pediatric practice

Background. Di Giorgi syndrome is grouped under the term chromosome 22q11.2 deletion syndrome (22q11.2DS). It refers to combined primary immunodeficiencies with syndromal manifestations. The phenotype of 22q11.2DS is unusually variable, even among relatives. The symptoms of 22q11.2DS can vary in bot...

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Bibliographic Details
Main Authors: A. A. Pavlikov, I. M. Melnikova, T. I. Pakhomova, N. P. Myakin
Format: Article
Language:Russian
Published: Open Systems Publication 2023-10-01
Series:Лечащий Врач
Subjects:
Online Access:https://journal.lvrach.ru/jour/article/view/1120