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...

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Detalles Bibliográficos
Autores principales: Höppner, Jakob, Lais, Sabrina, Roll, Claudia, Wegener-Panzer, Andreas, Wieczorek, Dagmar, Högler, Wolfgang, Grasemann, Corinna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Endocrinology
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

Internet

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

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