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Nijmegen breakage syndrome
Nijmegen breakage syndrome (NBS), also known as Berlin breakage syndrome and Seemanova syndrome, is a rare autosomal recessive congenital disorder causing chromosomal instability, probably as a result of a defect in the Double Holliday junction DNA repair mechanism.
More at Wikipedia
DNA repair-deficiency disorder
Chromosome instability syndromes
More related topics
Autosomal recessive disorders
Syndromes
Rare diseases
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