Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.
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Ruling in a suspect: the role of AP2S1 mutations in familial hypocalciuric hypercalcemia type 3.
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Neurodevelopmental Abnormalities in Patients with Familial Hypocalciuric Hypercalcemia Type 3.
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Familial hypocalciuric hypercalcaemia type 3: AP2S1 missense mutation.
Kerut S, Kovvuru KR, Yanes-Cardozo L, Garla VV.
BMJ Case Rep. 2020 Nov 9;13(11):e236631. doi: 10.1136/bcr-2020-236631.
Familial hypocalciuric hypercalcemia in an infant: diagnosis and management quandaries.
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J Bone Miner Res. 2024 Sep 26;39(10):1406-1411. doi: 10.1093/jbmr/zjae137.
Familial Hypocalciuric Hypercalcemia Type 1 and Autosomal-Dominant Hypocalcemia Type 1: Prevalence in a Large Healthcare Population.
Dershem R, Gorvin CM, Metpally RPR, Krishnamurthy S, Smelser DT, Hannan FM, Carey DJ, Thakker RV, Breitwieser GE; Regeneron Genetics Center.
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Familial Hypocalciuric Hypercalcemia Types 1 and 3 and Primary Hyperparathyroidism: Similarities and Differences.
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Cinacalcet therapy in a child with novel homozygous CASR p.Glu353Lys mutation causing familial hypocalciuric hypercalcemia type 1: case report and review of the literature.
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Cinacalcet Reverses Short QT Interval in Familial Hypocalciuric Hypercalcemia Type 1.
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[Familial Hypocalciuric Hypercalcemia Type 1 Likely Secondary to a New Inactivating Mutation of CASR].
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Ruling in a suspect: the role of AP2S1 mutations in familial hypocalciuric hypercalcemia type 3.
Hendy GN, Cole DE.
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