A novel CASR variant in a family with familial hypocalciuric hypercalcaemia and primary hyperparathyroidism

SUMMARY: Familial hypocalciuric hypercalcaemia (FHH) is a dominantly inherited, lifelong benign disorder characterised by asymptomatic hypercalcaemia, relative hypocalciuria and variable parathyroid hormone levels. It is caused by loss-of-function pathogenic variants in the calcium-sensing receptor...

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Detalles Bibliográficos
Autores principales: Sagi, Satyanarayana V, Joshi, Hareesh, Trotman, Jamie, Elsey, Terence, Swamy, Ashwini, Rajkanna, Jeyanthy, Bhat, Nazir A, Haddadin, Firas J S, Oyibo, Samson O, Park, Soo-Mi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2020
Materias:
New Disease or Syndrome: Presentations/Diagnosis/Management
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7576638/
https://www.ncbi.nlm.nih.gov/pubmed/33434173
http://dx.doi.org/10.1530/EDM-20-0084

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7576638/
https://www.ncbi.nlm.nih.gov/pubmed/33434173
http://dx.doi.org/10.1530/EDM-20-0084

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