Article
Case Report: A novel WRN mutation in Werner syndrome patient with diabetic foot disease and myelodysplastic syndrome.
Frontiers in endocrinology - 1 Jan 2022
Peng Huifang, Wang Jie, Liu Yanyun, Yang Haiping, Li Liping, Ma Yujin, Zhuo Huiqin, Jiang Hongwei
Abstract excerpt
Werner syndrome is an autosomal recessive rare disease caused by a WRN gene mutation, which is rarely reported in the Chinese population. We report the clinical and genetic data of a Chinese patient with Werner syndrome. The proband was a 40-year-old male patient who presented with diabetic foot ulcers, accompanied by short stature, cataracts, hypogonadism, and hair thinning, and myelodysplastic syndrome (MDS)...
Topics
- Adult
- Diabetes Mellitus
- Diabetic Foot
- Humans
- Male
- Mutation
- Myelodysplastic Syndromes
- Werner Syndrome
- Werner Syndrome Helicase
