Prenatal Diagnosis of Mucopolysaccharidosis-Plus Syndrome (MPSPS)

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 <i>VPS33A</i> 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...

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Bibliographic Details
Main Authors: Viktoriia Sofronova, Lyutsiya Gotovtseva, Anastasia Danilova, Aitalina Sukhomyasova, Takahito Moriwaki, Seigo Terawaki, Takanobu Otomo, Nadezhda Maksimova
Format: Article
Language:English
Published: MDPI AG 2023-08-01
Series:Genes
Subjects:
mucopolysaccharidosis
MPSPS
VPS33A
prenatal diagnosis
the Yakuts
Online Access:https://www.mdpi.com/2073-4425/14/8/1581

Internet

https://www.mdpi.com/2073-4425/14/8/1581

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