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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 ...
- ... GNA11 gene have been found in individuals with autosomal dominant hypocalcemia type 2. This condition is characterized by low ... which is known as hypoparathyroidism. For this reason, autosomal dominant hypocalcemia is sometimes referred to as autosomal dominant hypoparathyroidism. ...
- ... the CASR gene can cause a condition called autosomal dominant hypocalcemia type 1, which is characterized by low levels ... sensing receptors determine clinical presentations in patients with autosomal dominant hypocalcemia. J Clin Endocrinol Metab. 2014 Feb;99(2): ...
- ... 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 ...
