Scientific Publication 

Defining the Clinical Spectrum of Rare Disorders

Author(s): Skrahina, Volha, phD

Although considered syndromal, multiple uncommon diseases can present with only a single clinical symptom. An epidemiological clinical study led by CENTOGENE provided impressive evidence for the relevance of this phenomenon in hereditary TTR-related amyloidosis.

Many rare disorders, despite being considered syndromic, may manifest with only a single clinical symptom. A CENTOGENE-led epidemiological clinical study provided impressive evidence for the relevance of this phenomenon in hereditary TTR-related amyloidosis. The study’s results were published in Annals of Medicine.


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