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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...

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PMID: 38442846
DOI: 10.1016/j.ejmg.2024.104933

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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