Progressive paravertebral ligament ossification and pseudoarthrosis in the thoracic spine due to loss of function of the PHEX gene in a patient with X-linked hypophosphatemic rickets

J Orthop Sci. 2023 Jan;28(1):295-298. doi: 10.1016/j.jos.2020.06.001. Epub 2020 Jul 19.

Authors

Yasuhito Yahara¹, Hideki Niimi², Nana Sugie², Shoji Seki³, Ryo Ueshima³, Hiroto Makino³, Katsuhiko Kamei³, Isao Kitajima², Yoshiharu Kawaguchi³

Affiliations

¹ Department of Orthopaedic Surgery, Faculty of Medicine, University of Toyama, Toyama, 930-0194, Japan. Electronic address: yyahara@med.u-toyama.ac.jp.
² Clinical Laboratory Center, Toyama University Hospital, Toyama, 930-0194, Japan.
³ Department of Orthopaedic Surgery, Faculty of Medicine, University of Toyama, Toyama, 930-0194, Japan.

PMID: 32698954
DOI: 10.1016/j.jos.2020.06.001

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Familial Hypophosphatemic Rickets* / complications
Familial Hypophosphatemic Rickets* / genetics
Humans
Ligaments
Mutation
Osteogenesis
PHEX Phosphate Regulating Neutral Endopeptidase / genetics
Pseudarthrosis*

Substances

PHEX protein, human
PHEX Phosphate Regulating Neutral Endopeptidase