Identification of p.Arg205Cys in CASR in an autosomal dominant hypocalcaemia type 1 pedigree
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DOI: 10.1097/md.0000000000026443
Abstract: Abstract Rationale: Autosomal dominant hypocalcaemia type 1 (ADH1) is a genetic disease characterized by benign hypocalcemia, inappropriately low parathyroid hormone levels and mostly hypercalciuria. It is caused by the activating mutations of the calcium-sensing receptor… read more here.
Keywords: casr; adh1; dominant hypocalcaemia; arg205cys ... See more keywords