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Autosomal Dominant PTH Gene Signal Sequence Mutation in a Family With Familial Isolated Hypoparathyroidism.
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Exome Sequencing Reveals Mutations in AIRE as a Cause of Isolated Hypoparathyroidism.
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Autosomal Dominant Hypocalcemia (Hypoparathyroidism) Types 1 and 2.
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GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism.
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Disorders of the calcium-sensing receptor and partner proteins: insights into the molecular basis of calcium homeostasis.
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Novel Findings into AIRE Genetics and Functioning: Clinical Implications.
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Clinical and mutational spectrum of hypoparathyroidism, deafness and renal dysplasia syndrome.
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Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2).
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Clinical manifestations and frequency of hypocalcemia in 22q11.2 deletion syndrome.
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Gata3 cooperates with Gcm2 and MafB to activate parathyroid hormone gene expression by interacting with SP1.
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