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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...
Shranjeno v:
| izdano v: | Hum Genome Var |
|---|---|
| Main Authors: | , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Nature Publishing Group UK
2020
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| Teme: | |
| Online dostop: | 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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