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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Detalhes bibliográficos
Publicado no:Endocrinol Diabetes Metab Case Rep
Main Authors: Kwan, Benjamin, Champion, Bernard, Boyages, Steven, Munns, Craig F, Clifton-Bligh, Roderick, Luxford, Catherine, Crawford, Bronwyn
Formato: Artigo
Idioma:Inglês
Publicado em: Bioscientifica Ltd 2018
Assuntos:
New Disease or Syndrome: Presentations/Diagnosis/Management
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6169543/
https://ncbi.nlm.nih.gov/pubmed/30306783
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EDM-18-0107
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