Article
Molecular Diagnostics of Ciliopathies and Insights Into Novel Developments in Diagnosing Rare Diseases
10 Jan 2022
Abstract excerpt
The definition of a rare disease in the European Union describes genetic disorders that affect less than 1 in 2,000 people per individual disease; collectively these numbers amount to millions of individuals globally, who usually manifest a rare disease early on in life. At present, there are at least 8,000 known rare conditions, of which only some are clearly molecularly defined. Over the recent years, the use...
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