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

• Hauptverfasser: Mohamed Aashiq (Verfasst von), Asma Jassim Malallah (Verfasst von), Farheen Khan (Verfasst von), Maryam Alsada (Verfasst von)
• Format: Buch
• Veröffentlicht: Hindawi Limited, 2020-01-01T00:00:00Z.
• Schlagworte: article
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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...