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Lesch–Nyhan syndrome: a case report
Lesch–Nyhan syndrome (LNS) is a rare X-linked recessive disorder caused by a mutation in the hypoxanthine phosphoribosyltransferase 1 (HPRT1) gene. This syndrome is characterized by excessive production of uric acid, mental retardation, self-mutilation, choreoathetosis, and spasticity. The most dist...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
The Korean Association of Oral and Maxillofacial Surgeons
2023
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10466019/ https://www.ncbi.nlm.nih.gov/pubmed/37641907 http://dx.doi.org/10.5125/jkaoms.2023.49.4.228 |