Prenatal Diagnosis of Mucopolysaccharidosis-Plus Syndrome (MPSPS)

Mucopolysaccharidosis-plus syndrome (MPSPS) is an autosomal-recessive disorder caused by c.1492C>T (p.R498W) in the VPS33A gene. MPSPS is a severe disorder that causes a short lifespan in patients. Currently, there is no specific treatment for patients. The Yakut population is more prone to this...

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Detalles Bibliográficos
Autores principales: Sofronova, Viktoriia, Gotovtseva, Lyutsiya, Danilova, Anastasia, Sukhomyasova, Aitalina, Moriwaki, Takahito, Terawaki, Seigo, Otomo, Takanobu, Maksimova, Nadezhda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10454871/
https://www.ncbi.nlm.nih.gov/pubmed/37628632
http://dx.doi.org/10.3390/genes14081581

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