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Results 1 - 6 of 6 for Autosomal dominant hypocalcemia 2
  1. Autosomal dominant hypocalcemia 
    ... NORD) ClinicalTrials.gov HYPOCALCEMIA, AUTOSOMAL DOMINANT 1; HYPOC1 HYPOCALCEMIA, AUTOSOMAL DOMINANT 2; HYPOC2 PubMed Kinoshita Y, Hori M, Taguchi M, ...
    https://medlineplus.gov/.../autosomal-dominant-hypocalcemia - Genetics
  2. GNA11 gene 
    ... GNA11 gene have been found in individuals with autosomal dominant hypocalcemia type 2. This condition is characterized by low levels of ... impair Gα11 signaling cause familial hypocalciuric hypercalcemia type 2. In ... hypocalcemia (described above), this condition is characterized by high ...
    https://medlineplus.gov/genetics/gene/gna11 - Genetics
  3. CASR gene 
    ... sensing receptors determine clinical presentations in patients with autosomal dominant hypocalcemia. J Clin Endocrinol Metab. 2014 Feb;99(2):E363-8. doi: 10.1210/jc.2013-3430. ...
    https://medlineplus.gov/genetics/gene/casr - Genetics
  4. Tubular aggregate myopathy 
    ... 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( ...
    https://medlineplus.gov/.../condition/tubular-aggregate-myopathy - Genetics
  5. Vitamin D-dependent rickets 
    ... rare cases, VDDR2A may be inherited in an autosomal dominant pattern. Autosomal dominant inheritance means one copy of the altered VDR ...
    https://medlineplus.gov/.../condition/vitamin-d-dependent-rickets - Genetics
  6. Pseudohypoparathyroidism 
    ... in childhood. Type 1a is inherited in an autosomal dominant manner . That means only one parent needs to ...
    https://medlineplus.gov/ency/article/000364.htm - Medical Encyclopedia