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Article

[Variant phenotype of Lesch-Nyhan syndrome].

Medicina clinica - 29 Jan 2011

Torres Jiménez Rosa, García García Marta, García Puig Juan

Abstract excerpt

BACKGROUND AND OBJECTIVE: Lesch-Nyhan syndrome (LNS) and LNS variants are due to mutations in the HPRT1 gene causing HPRT enzymatic activity deficiency. We report a patient presenting a variant phenotype and a major genetic defect. The mutation has been previously reported as always associated with complete Lesch-Nyhan phenotype. PATIENT AND METHODS: We analyzed the presence of complete HPRT mRNA in this patient,...

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Source

Identifiers

PMID: 20646721
DOI: 10.1016/j.medcli.2010.05.010

Genes

HPRT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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