Neurodevelopmental Abnormalities in Patients with Familial Hypocalciuric Hypercalcemia Type 3
Author:
Funder
Wellcome Trust
National Institute for Health and Care Research
Publisher
Elsevier BV
Subject
Pediatrics, Perinatology and Child Health
Reference43 articles.
1. Disorders of the calcium-sensing receptor and partner proteins: insights into the molecular basis of calcium homeostasis;Hannan;J Mol Endocrinol,2016
2. Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3;Nesbit;Nat Genet,2013
3. Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects;Hannan;Hum Mol Genet,2015
4. Codon Arg15 mutations of the AP2S1 gene: common occurrence in familial hypocalciuric hypercalcemia cases negative for calcium-sensing receptor (CASR) mutations;Hendy;J Clin Endocrinol Metab,2014
5. Familial hypocalciuric hypercalcemia types 1 and 3 and primary hyperparathyroidism: similarities and differences;Vargas-Poussou;J Clin Endocrinol Metab,2016
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