Article
A Novel Synonymous Variant of PHEX in a Patient with X-Linked Hypophosphatemia.
Calcified tissue international - 1 Dec 2022
Ma Xiaosen, Pang Qianqian, Zhang Qi, Jiang Yan, Wang Ou, Li Mei, Xing Xiaoping, Xia Weibo
Abstract excerpt
X-linked dominant hypophosphatemia (XLH), the most common form of hereditary hypophosphatemic rickets/osteomalacia, is caused by loss-of-function phosphate-regulating endopeptidase homolog X-linked gene (PHEX) variants. However, synonymous PHEX variants are rare in XLH. We report a 7-year-old boy with hypophosphatemia, short stature, and lower limb deformity. Whole-exome sequencing, reverse...
Topics
- Male
- Humans
- Child
- Familial Hypophosphatemic Rickets
- PHEX Phosphate Regulating Neutral Endopeptidase
- Exons
- Osteomalacia
- Genetic Diseases, X-Linked
- Mutation
- Hypophosphatemia