Albandary AlBakheet Hanan AlQudairy Joud Alkhalifah Sheikhah Almoaily Namik Kaya Zuhair Rahbeeni
10.3389/fgene.2022.1044936
Front Genet
2023 Jan 26;13:1044936.
hprt1 lesch–nyhan syndrome rtpcr x-inactivation assay de novo
CC BY
https://pubmed.ncbi.nlm.nih.gov/36778911/
Case Reports
PMC9908584
36778911
Detailed genetic and clinical analysis of a novel de novo variant in HPRT1: Case report of a female patient from Saudi Arabia with Lesch-Nyhan syndrome
2023