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Results 1 - 4 of 4 for Autosomal dominant hypocalcemia 1
  1. ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov HYPOCALCEMIA, AUTOSOMAL DOMINANT 1; HYPOC1 HYPOCALCEMIA, AUTOSOMAL DOMINANT 2; HYPOC2 PubMed Kinoshita ...
  2. ... the CASR gene can cause a condition called autosomal dominant hypocalcemia type 1, which is characterized by low levels of calcium ...
  3. ... 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/ ...
  4. ... 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 ...