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Lesch-Nyhan Syndrome

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Atlas of Genetic Diagnosis and Counseling
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Abstract

In 1964, Lesch and Nyhan provided the first detailed clinical description of Lesch-Nyhan syndrome with a report of two brothers with hyperuricemia and a characteristic neurobehavioral syndrome that included motor dysfunction and self-injurious behavior. The prevalence of the syndrome is estimated to be approximately 1:380,000.

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Chen, H. (2017). Lesch-Nyhan Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2401-1_147

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  • DOI: https://doi.org/10.1007/978-1-4939-2401-1_147

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  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4939-2400-4

  • Online ISBN: 978-1-4939-2401-1

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