Associated Papers
Case report: Whole exome sequencing identifies a novel variant in the HPRT1 gene in a male with developmental delay.
Zheng H et al.
Frontiers in Genetics, 2025
40092560 (PubMed )
Supplement: Table1.docx
Description of the Molecular and Phenotypic Spectrum of Lesch-Nyhan Disease in Eight Chinese Patients.
Li L et al.
Frontiers in Genetics, 2022
Eighteen novel mutations in patients with Lesch-Nyhan syndrome or partial hypoxanthine phosphoribosyltransferase deficiency.
Willers I et al.
Journal of Inherited Metabolic Disease, 1999
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