Phenotypes of a family with XLH with a novel PHEX mutation
Open Access
- 31 March 2020
- journal article
- research article
- Published by Springer Science and Business Media LLC in Human Genome Variation
- Vol. 7 (1), 1-3
- https://doi.org/10.1038/s41439-020-0095-1
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.Keywords
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