Detailed genetic and clinical analysis of a novel de novo variant in HPRT1: Case report of a female patient from Saudi Arabia with Lesch–Nyhan syndrome

Overview of attention for article published in Frontiers in Genetics, January 2023

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What is Lesch-Nyhan syndrome?

Medical News Today, 07 Mar 2024

Lesch-Nyhan syndrome is a rare inborn error of metabolism. It occurs due to an issue with an enzyme, resulting in an…

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