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Autosomal dominant hypocalcemia 2
- ... NORD) ClinicalTrials.gov HYPOCALCEMIA, AUTOSOMAL DOMINANT 1; HYPOC1 HYPOCALCEMIA, AUTOSOMAL DOMINANT 2; HYPOC2 PubMed Kinoshita Y, Hori M, Taguchi M, ...
- ... Goto Y, Matsumoto N, Nonaka I, Nishino I. Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca(2)(+) channels. Hum Mol Genet. 2015 Feb 1;24( ...
- ... rare cases, VDDR2A may be inherited in an autosomal dominant pattern. Autosomal dominant inheritance means one copy of the altered VDR ...