fbn1 gene

How is Histology Used in Diagnosing fbn1-Related Disorders?

Histological analysis is crucial in diagnosing disorders related to fbn1 mutations. Tissue biopsies can be examined under a microscope to identify characteristic abnormalities in the ECM. Immunohistochemistry can be used to visualize fibrillin-1 and other ECM components, providing insights into the structural alterations caused by fbn1 mutations.

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