Phenotypes of a family with XLH with a novel PHEX mutation.

ABSTRACT: X-linked hypophosphatemia (XLH) is the most common form of heritable hypophosphatemic rickets. We encountered a 4-year-old boy with a novel variant in the phosphate-regulating neutral endopeptidase homolog X-linked (PHEX) gene who presented with a short stature, genu valgum, and scaphocephaly. The same mutation was identified in his mother and sister; however, the patient presented with a more severe case.

SUBMITTER: Yamamoto A 

PROVIDER: S-EPMC7109063 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature