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Rare PHEX variant with insidious presentation leads to a delayed diagnosis of X-linked hypophosphatemia
A 7-year-old girl without a significant previous medical history was diagnosed with X-linked hypophosphatemic rickets (XLHR) due to a rare, most likely pathogenic, PHEX gene variant after a 4-year delayed diagnosis due to mild clinical presentation. At 2 years of age, her intoeing and femoral bowing...
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| Pubblicato in: | BMJ Case Rep |
|---|---|
| Autori principali: | , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BMJ Publishing Group
2021
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8137255/ https://ncbi.nlm.nih.gov/pubmed/34011663 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2020-240336 |
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