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Nijmegen breakage syndrome in pediatric practice (literature review and personal observation)
Journal: The Journal of V.N. Karazin Kharkiv National University, series "Medicine" (Vol.52, No. 52)Publication Date: 2025-02-28
Authors : A.D. Hubanov V.S. Konoplitskyi V.V. Pohorilyi O.V. Tykholaz A.I. Sasiuk Ye.Ye. Loiko T.I. Mykhalchuk Yu.A. Dymchyna Yu.Ye. Korobko O.V. Pasichnyk;
Page : 124-135
Keywords : Nijmegen breakage syndrome surgical complications immunodeficiency infection respiratory tract leukemia destructive pneumonia malignant neoplasms autosomal recessive disease;
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Abstract
Background. Nijmegen breakage syndrome is a rare autosomal recessive disease characterized by microcephaly, specific facial features, immunodeficiency, and an increased susceptibility to malignancies.
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Last modified: 2025-05-25 01:19:43