Description of the Molecular and Phenotypic Spectrum of Lesch-Nyhan Disease in Eight Chinese Patients

Background: Lesch-Nyhan disease (LND) is a rare disorder involving pathogenic variants in the HPRT1 gene encoding the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT) that result in hyperuricemia, intellectual disability, dystonic movement disorder, and compulsive self-mutilation. The p...

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Detalles Bibliográficos
Autores principales: Li, Lu, Qiao, Xiaohui, Liu, Fei, Wang, Jingjing, Shen, Huijun, Fu, Haidong, Mao, Jian-Hua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9086273/
https://www.ncbi.nlm.nih.gov/pubmed/35559039
http://dx.doi.org/10.3389/fgene.2022.868942

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9086273/
https://www.ncbi.nlm.nih.gov/pubmed/35559039
http://dx.doi.org/10.3389/fgene.2022.868942

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