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Novel Mutation in the CASR Gene (p.Leu123Ser) in a Case of Autosomal Dominant Hypocalcemia
Autosomal dominant hypocalcemia, caused by activating mutations of the calcium-sensing receptor (CASR) gene, is characterized by hypocalcemia with an inappropriately low concentration of parathyroid hormone (PTH). In this report, we describe the identification of a novel missense mutation in the CAS...
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| Publicado no: | J Pediatr Genet |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Georg Thieme Verlag KG
2015
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| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4906418/ https://ncbi.nlm.nih.gov/pubmed/27617113 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0035-1554979 |
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