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

Background: Hypoxanthine-guanine phosphoribosyltransferase (HPRT1) deficiency is an inborn error of purine metabolism responsible for Lesch–Nyhan syndrome (LNS). The disease is inherited in an X-linked recessive manner and predominantly affects male individuals. Female individuals can carry a mutati...

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Detalles Bibliográficos
Autores principales: AlBakheet, Albandary, AlQudairy, Hanan, Alkhalifah, Joud, Almoaily, Sheikhah, Kaya, Namik, Rahbeeni, Zuhair
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9908584/
https://www.ncbi.nlm.nih.gov/pubmed/36778911
http://dx.doi.org/10.3389/fgene.2022.1044936

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9908584/
https://www.ncbi.nlm.nih.gov/pubmed/36778911
http://dx.doi.org/10.3389/fgene.2022.1044936

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