Clinical manifestations and genetic mutation analysis of patients with mucopolysaccharidosis type VII in China

CONCLUSION: The study's patients all presented with classic symptoms of MPS VII due to β-glucuronidase deficiency, with three new pathogenic mutations identified in the GUSB gene. Genetic counseling and prenatal testing were highlighted as crucial for disease prevention.PMID:38442846 | DOI:10.1016/j.ejmg.2024.104933

Source: European Journal of Medical Genetics - March 5, 2024 Category: Genetics & Stem Cells Authors: Xueying Su Xiaoyuan Zhao Xi Yin Li Liu Yonglan Huang Chunhua Zeng Xiuzhen Li Wen Zhang Source Type: research