Dominant-Negative GCMB Mutations Cause an Autosomal Dominant Form of Hypoparathyroidism

Context: Hypoparathyroidism (HP) is characterized by low PTH levels, hypocalcemia, and hyperphosphatemia. Heterozygous mutations in pre-pro-PTH or the calcium-sensing receptor (CaSR) cause some forms of autosomal dominant HP (AD-HP). Furthermore, homozygous mutations in glial cells missing B (GCMB)...

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Main Authors: Mannstadt, Michael, Bertrand, Guylène, Muresan, Mihaela, Weryha, Georges, Leheup, Bruno, Pulusani, Sirish R., Grandchamp, Bernard, Jüppner, Harald, Silve, Caroline
Formato: Artigo
Idioma:Inglês
Publicado em: The Endocrine Society 2008
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2567849/
https://ncbi.nlm.nih.gov/pubmed/18583467
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2007-2167
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