Atypical presentation of Arts syndrome due to a novel hemizygous loss-of-function variant in the PRPS1 gene

The PRPS1 gene, located on Xq22.3, encodes phosphoribosyl-pyrophosphate synthetase (PRPS), a key enzyme in de novo purine synthesis. Three clinical phenotypes are associated with loss-of-function PRPS1 variants and decreased PRPS activity: Arts syndrome (OMIM: 301835), Charcot–Marie–Tooth disease ty...

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Detalles Bibliográficos
Autores principales: Puusepp, Sanna, Reinson, Karit, Pajusalu, Sander, van Kuilenburg, André B.P., Dobritzsch, Doreen, Roelofsen, Jeroen, Stenzel, Werner, Õunap, Katrin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7689168/
https://www.ncbi.nlm.nih.gov/pubmed/33294372
http://dx.doi.org/10.1016/j.ymgmr.2020.100677

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7689168/
https://www.ncbi.nlm.nih.gov/pubmed/33294372
http://dx.doi.org/10.1016/j.ymgmr.2020.100677

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