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
[Analysis of HPRT1 gene variant and prenatal diagnosis for a Chinese pedigree with Lesch-Nyhan syndrome but no specimen from affected probands].
Tong M et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2022
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