Nijmegen breakage Syndrome - how much do we know about this rare condition of Slavs? - disease overview

• Main Authors: Adrianna Muciek (Author), Martyna Mocarska (Author), Anna Orłowska (Author), Katarzyna Strakowska (Author), Laura Opalska (Author), Anna Maryńczak (Author), Jan Mencel (Author), Nicole Nitschke (Author)
• Format: Book
• Published: Nicolaus Copernicus University in Toruń, 2024-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Nijmegen breakage syndrome (NBS) is a rare autosomal recessive defect of immunity, characterised by chromosomal instability and radiation sensitivity with a high predisposition to malignancy. The clinical manifestations of this condition include microcephaly, combined immunodeficiency, growth retard...