Phenotypes of a family with XLH with a novel PHEX mutation

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 s...

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Bibliografiske detaljer
Udgivet i:Hum Genome Var
Main Authors: Yamamoto, Akiko, Nakamura, Toshiro, Ohata, Yasuhisa, Kubota, Takuo, Ozono, Keiichi
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group UK 2020
Fag:
Data Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7109063/
https://ncbi.nlm.nih.gov/pubmed/32257293
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-020-0095-1
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