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Identification of p.Arg205Cys in CASR in an autosomal dominant hypocalcaemia type 1 pedigree: A case report
RATIONALE: Autosomal dominant hypocalcaemia type 1 (ADH1) is a genetic disease characterized by benign hypocalcemia, inappropriately low parathyroid hormone levels and mostly hypercalciuria. It is caused by the activating mutations of the calcium-sensing receptor gene (CASR), which produces a left-s...
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| Vydáno v: | Medicine (Baltimore) |
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| Hlavní autoři: | , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Lippincott Williams & Wilkins
2021
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8238359/ https://ncbi.nlm.nih.gov/pubmed/34160437 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000026443 |
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