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Case Report: Severe Neonatal Course in Paternally Derived Familial Hypocalciuric Hypercalcemia
Familial hypocalciuric hypercalcemia (FHH, [OMIM #145980]) is recognized as a benign endocrine condition affecting PTH and calcium levels due to heterozygous inactivating mutations in the calcium sensing receptor (CaSR). The condition is often un- or misdiagnosed but may have a prevalence as high as...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8518617/ https://www.ncbi.nlm.nih.gov/pubmed/34659108 http://dx.doi.org/10.3389/fendo.2021.700612 |