Article
Clinical manifestations and genetic mutation analysis of patients with mucopolysaccharidosis type VII in China.
European journal of medical genetics - 1 Apr 2024
Su Xueying, Zhao Xiaoyuan, Yin Xi, Liu Li, Huang Yonglan, Zeng Chunhua, Li Xiuzhen, Zhang Wen
Abstract excerpt
OBJECTIVE: This study aimed to explore the clinical and genetic features of Chinese patients with mucopolysaccharidosis type VII (MPS VII), thereby improving early detection, disease management, and patient outcomes. METHODS: A retrospective review of medical records for five patients presenting with coarse facial features, rib protrusion, chest deformities, and scoliosis was conducted. Exome sequencing was...
Topics
- Male
- Pregnancy
- Humans
- Female
- Infant, Newborn
- Infant
- Mucopolysaccharidosis VII
- Glucuronidase
- Facies
- Mutation