A Gain-of-Function CASR Mutation Causing Hypocalcemia in a Recessive Manner.
Level V
Where this comes from
- Record sourced from PubMed, PMID 30020481.
- Also identified by DOI 10.1210/jc.2018-01340 and PMC identifier 6669810.
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Abstract
A new gain-of-function CASR mutation has been described as a cause of hypocalcemia. This mutation, unlike other such mutations, is inherited recessively and has implications in genetic evaluation.
Medical subject headings
- Hypocalcemia
- Hypoparathyroidism