3 Result(s)
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Yuzhi Zuo
Internal Medicine
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Article
Open AccessExpanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders
Pathogenic variants in MYH3 cause distal arthrogryposis type 2A and type 2B3 as well as contractures, pterygia and spondylocarpotarsal fusion syndromes types 1A and 1B. These disorders are ultra-rare and their na...
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Article
Open AccessMultiple inferior vena cava aneurysms mimic a retroperitoneal tumor: a case report
Inferior vena cava (IVC) aneurysms are extremely rare with variable clinical manifestations. Patients are usually asymptomatic or present with complications of thrombosis and rupture. To date, there have been ...
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Article
Molecular therapeutic strategies for FGFR3 gene-related skeletal dysplasia
The FGFR3 gene encodes fibroblast growth factor receptor 3 protein, a negative regulator of chondrogenesis. Gain-of-function mutations result in constitutively activated FGFR3, leading to aberrant signal transduc...
