Identification a novel insertion PHEX mutation in a sporadic patient with hypophosphatemic rickets

J Endocrinol Invest. 2019 Mar;42(3):357-359. doi: 10.1007/s40618-018-0976-z. Epub 2018 Nov 8.

Authors

P Jin¹, L H Wang², Z H Mo²

Affiliations

¹ Department of Endocrinology, The Third Xiangya Hospital, Central South University, Tongzipo Road, Changsha, Hunan Province, People's Republic of China. jping7676@hotmail.com.
² Department of Endocrinology, The Third Xiangya Hospital, Central South University, Tongzipo Road, Changsha, Hunan Province, People's Republic of China.

PMID: 30406928
DOI: 10.1007/s40618-018-0976-z

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adolescent
Female
Humans
Mutation*
PHEX Phosphate Regulating Neutral Endopeptidase / genetics*
Prognosis
Rickets, Hypophosphatemic / genetics*
Rickets, Hypophosphatemic / pathology*

Substances

PHEX Phosphate Regulating Neutral Endopeptidase
PHEX protein, human

Grants and funding