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Autosomal dominant hypocalcemia
- Autosomal dominant hypocalcemia is characterized by low levels of calcium in the blood (hypocalcemia). Affected individuals can have an ... or too little magnesium (hypomagnesemia). Some people with autosomal dominant hypocalcemia also have low levels of a hormone called ...
- ... by STIM1 gene mutations, are inherited in an autosomal dominant pattern. Autosomal dominant inheritance means one copy of the altered gene ... Goto Y, Matsumoto N, Nonaka I, Nishino I. Dominant mutations in ORAI1 cause ... with hypocalcemia via constitutive activation of store-operated Ca(2)(+) ...
- ... rare cases, VDDR2A may be inherited in an autosomal dominant pattern. Autosomal dominant inheritance means one copy of the altered VDR ...
