Article
Clinical and biochemical characteristics of 12 Chinese primary hypertrophic osteoarthropathy patients with HPGD mutations.
International journal of biological sciences - 1 Jan 2022
Lu Qi, Xu Yang, Li Shanshan, Zhang Zeng, Sheng Jiagen, Zhang Zhenlin
Abstract excerpt
Primary hypertrophic osteoarthropathy (PHO) is a rare genetic disease mainly affecting the skeletal and skin. Two genes involved in prostaglandin degradation are known to be responsible for PHO: HPGD and SLCO2A1. HPGD gene mutation can cause PHO autosomal recessive 1 (PHOAR1). The purpose of the present study is to analyze the clinical and biochemical characteristics and HPGD gene mutations of 12 Chinese PHOAR1...
Topics
- Child, Preschool
- China
- DNA Mutational Analysis
- Dinoprostone
- Female
- Humans
- Hydroxyprostaglandin Dehydrogenases
- Male
- Mutation
- Organic Anion Transporters
- Osteoarthropathy, Primary Hypertrophic