A novel CASR mutation (p.Glu757Lys) causing autosomal dominant hypocalcaemia type 1

Autosomal dominant hypocalcaemia type 1 (ADH1) is a rare familial disorder characterised by low serum calcium and low or inappropriately normal serum PTH. It is caused by activating CASR mutations, which produces a left-shift in the set point for extracellular calcium. We describe an Australian fami...

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Detalles Bibliográficos
Autores principales: Kwan, Benjamin, Champion, Bernard, Boyages, Steven, Munns, Craig F, Clifton-Bligh, Roderick, Luxford, Catherine, Crawford, Bronwyn
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2018
Materias:
New Disease or Syndrome: Presentations/Diagnosis/Management
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6169543/
https://www.ncbi.nlm.nih.gov/pubmed/30306783
http://dx.doi.org/10.1530/EDM-18-0107

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6169543/
https://www.ncbi.nlm.nih.gov/pubmed/30306783
http://dx.doi.org/10.1530/EDM-18-0107

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