Clinical and Biochemical Features in a Case of Familial Hypocalciuric Hypercalcemia Type 3 with AP2S1 Gene Mutation in Codon Arg15His

Familial hypocalciuric hypercalcemia (FHH) is usually a benign condition divided into three types. FHH-3 occurs in about 20% of the cases and is caused due to missense mutations in AP2S1 (adaptor-related protein complex 2 subunit sigma 1) involving the codon Arg15 (p.R15). We report a case of FHH-3...

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Detalles Bibliográficos
Autores principales: Aashiq, Mohamed, Malallah, Asma Jassim, Khan, Farheen, Alsada, Maryam
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7007930/
https://www.ncbi.nlm.nih.gov/pubmed/32047691
http://dx.doi.org/10.1155/2020/7312894

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7007930/
https://www.ncbi.nlm.nih.gov/pubmed/32047691
http://dx.doi.org/10.1155/2020/7312894

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