genetic syndromes

How Can Histological Examination Aid in the Diagnosis of Genetic Syndromes?

Histological examination can provide crucial insights into the diagnosis of genetic syndromes. For instance, a biopsy of the skin in a patient suspected of having Ehlers-Danlos Syndrome can reveal abnormalities in collagen fibers. Similarly, a muscle biopsy in a patient with Duchenne Muscular Dystrophy can show characteristic changes such as muscle fiber necrosis and regeneration, along with increased connective tissue.

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