A variant in the CASR gene (c.368T>C) causing hypocalcemia refractory to standard medical therapy

SUMMARY: Hypoparathyroidism is characterized by low or inappropriately normal parathormone production, hypocalcemia and hyperphosphatemia. Autosomal dominant hypocalcemia (ADH) type 1 is one of the genetic etiologies of hypoparathyroidism caused by heterozygous activating mutations in the calcium-se...

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Detalles Bibliográficos
Autores principales: Festas Silva, Diana, De Sousa Lages, Adriana, Caetano, Joana Serra, Cardoso, Rita, Dinis, Isabel, Gomes, Leonor, Paiva, Isabel, Mirante, Alice
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2021
Materias:
Insight into Disease Pathogenesis or Mechanism of Therapy
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8686169/
https://www.ncbi.nlm.nih.gov/pubmed/34866060
http://dx.doi.org/10.1530/EDM-21-0005

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8686169/
https://www.ncbi.nlm.nih.gov/pubmed/34866060
http://dx.doi.org/10.1530/EDM-21-0005

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