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Nijmegen Breakage Syndrome Carrier Status Report

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0.01 mg/$

Description

Nijmegen breakage syndrome is a rare genetic disorder characterized by developmental delay, recurring infections, and an increased risk of cancer. It is caused by variants in the NBN gene, which affects the protein nibrin responsible for repairing damaged DNA. Symptoms include a small head size, developmental delay, recurring infections, and an increased risk for cancer, typically developing before birth. This condition is most common in people of Eastern European descent, particularly of Slavic descent.

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