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Whole exome sequencing reveals heparan sulfate proteoglycan 2 (HSPG2) as a potential causative gene for kidney stone disease in a Thai family.

Urolithiasis - 16 Dec 2024

Praditsap Oranud, Ahsan Nawara Faiza, Nettuwakul Choochai, Sawasdee Nunghathai, Sritippayawan Suchai, Yenchitsomanus Pa-Thai, Rungroj Nanyawan

Abstract excerpt

Kidney stone disease (KSD) is a prevalent and complex condition, with an incidence of 85 cases per 100,000 individuals in Thailand. Notably, over 40% of cases are concentrated in the northeastern region, indicating a potential genetic influence, which is supported by genetic mutations reported in several families by our research group. Despite this, the genetic basis of KSD remains largely unknown for many Thai...

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PMID: 39680213
DOI: 10.1007/s00240-024-01674-0
PMCID: PMC11649748

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