Atypical skeletal manifestations of rickets in a familial hypocalciuric hypercalcemia patient

Familial hypocalciuric hypercalcemia (FHH) is caused by inactivating mutations in the calcium-sensing receptor (CaSR) gene. The loss of function of CaSR presents with rickets as the predominant skeletal abnormality in mice, but is rarely reported in humans. Here we report a case of a 16-year-old boy...

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Detalles Bibliográficos
Autores principales: Wu, Bo, Wang, Ou, Jiang, Yan, Li, Mei, Xing, Xiaoping, Xia, Weibo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5486235/
https://www.ncbi.nlm.nih.gov/pubmed/28690912
http://dx.doi.org/10.1038/boneres.2017.1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5486235/
https://www.ncbi.nlm.nih.gov/pubmed/28690912
http://dx.doi.org/10.1038/boneres.2017.1

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