Dominant-NegativeGCMBMutations Cause an Autosomal Dominant Form of Hypoparathyroidism | Zendy

Michael Mannstadt | Zendy; Guylène Bertrand | Zendy; Mihaela Mureşan | Zendy; G. Weryha | Zendy; Bruno Leheup | Zendy; Sirish R. Pulusani | Zendy; Bernard Grandchamp | Zendy; Harald Jüppner | Zendy; Caroline Silve | Zendy

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Dominant-NegativeGCMBMutations Cause an Autosomal Dominant Form of Hypoparathyroidism

Author(s) -

Michael Mannstadt,

Guylène Bertrand,

Mihaela Mureşan,

G. Weryha,

Bruno Leheup,

Sirish R. Pulusani,

Bernard Grandchamp,

Harald Jüppner,

Caroline Silve

Publication year - 2008

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2007-2167

Subject(s) - hypoparathyroidism , hyperphosphatemia , context (archaeology) , endocrinology , calcium sensing receptor , medicine , mutation , biology , genetics , calcium , gene , parathyroid hormone , paleontology

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) have been implicated in autosomal recessive HP (AR-HP). In most other HP patients, however, the molecular defect remains undefined.

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