Abstract:Objective: To discuss the case of a woman and her father with autosomal dominant hypocalcemia (ADH), a rare disorder caused by an activating mutation of the calcium-sensing receptor (CaSR). Methods: Previous ADH case reports were obtained by Medline search and from an updated CaSR database. Results: A 37-year-old female presented with intermittent leg cramps and hypocalcemia. Her father had been previously diagnosed with asymptomatic hypocalcemia at age 54. Genetic analysis in both individuals revealed identic… Show more
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