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Article

Lesch-Nyhan syndrome and its variants: examining the behavioral and neurocognitive phenotype.

Current opinion in psychiatry - 1 Mar 2018

Harris James C

Abstract excerpt

PURPOSE OF REVIEW: Lesch-Nyhan Syndrome (LNS) is a metabolic disorder involving mutations in the HGPRT1 gene that result in hyperuricemia, intellectual disability, a dystonic movement disorder, and compulsive self-injury with self-mutilation. The aim of this review is to summarize recent research that documents the extended behavioral, neurologic, and neurocognitive phenotype in classic LNS, to describe milder...

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PMID: 29227296
DOI: 10.1097/YCO.0000000000000388

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