Phenotypes of a family with XLH with a novel PHEX mutation.
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ABSTRACT:
SUBMITTER: Yamamoto A
PROVIDER: S-EPMC7109063 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
Publications
Phenotypes of a family with XLH with a novel <i>PHEX</i> mutation.
Yamamoto Akiko A Nakamura Toshiro T Ohata Yasuhisa Y Kubota Takuo T Ozono Keiichi K
Human genome variation 20200331
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 (<i>PHEX</i>) 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. ...[more]
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