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Burden of rare genetic disorders in India: twenty-two years’ experience of a tertiary centre

13 Aug 2024

Abstract excerpt

BACKGROUND: Rare disorders comprise of ~ 7500 different conditions affecting multiple systems. Diagnosis of rare diseases is complex due to dearth of specialized medical professionals, testing labs and limited therapeutic options. There is scarcity of data on the prevalence of rare diseases in different populations. India being home to a large population comprising of 4600 population groups, of which several...

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PMID: 39138584
DOI: 10.1186/s13023-024-03300-z

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