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Autosomal dominant hypocalcemia 1
- ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov HYPOCALCEMIA, AUTOSOMAL DOMINANT 1; HYPOC1 HYPOCALCEMIA, AUTOSOMAL DOMINANT 2; HYPOC2 PubMed Kinoshita ...
- ... the CASR gene can cause a condition called autosomal dominant hypocalcemia type 1, which is characterized by low levels of calcium ...
- ... 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(3):637-48. doi: 10.1093/hmg/ ...
- ... may be inherited in an autosomal dominant pattern. Autosomal dominant inheritance means one copy of the altered VDR gene in each ... National Organization for Rare Disorders (NORD) VITAMIN D ...