A case of familial hypocalciuric hypercalcemia type 1 due to CASR p.Pro55Leu mutation

[1] Turner JJO(2017)Hypercalcaemia - presentation and management Clin Med (Lond) 17 270-273

[2] Lee JY(2018)Familial hypocalciuric hypercalcemia and related disorders Best Pract Res Clin Endocrinol Metab 32 609-619

[3] Shoback DM(2001)The prevalence of familial hypocalciuric hypercalcemia Calcif Tissue Int 68 216-218

[4] Hinnie J(2008)Discriminative power of three indices of renal calcium excretion for the distinction between familial hypocalciuric hypercalcaemia and primary hyperparathyroidism: a follow-up study on methods Clin Endocrinol (Oxf) 69 713-720

[5] Bell E(1989)Familial benign (hypocalciuric) hypercalcemia. A troublesome mimic of mild primary hyperparathyroidism Endocrinol Metab Clin North Am 18 723-740

[6] McKillop E(2015)Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Genet Med 17 405-424

[7] Gallacher S(2017)Calcimimetic use in familial hypocalciuric hypercalcemia-a perspective in endocrinology J Clin Endocrinol Metab 102 3933-3936

[8] Christensen SE(2000)Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia Hum Mutat 16 281-296

[9] Nissen PH(2012)Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites Hum Mol Genet 21 2768-2778

[10] Vestergaard P(1996)Functional characterization of calcium-sensing receptor mutations expressed in human embryonic kidney cells J Clin Invest 98 1860-1866

[1] Turner JJO(2017)Hypercalcaemia - presentation and management Clin Med (Lond) 17 270-273

[2] Lee JY(2018)Familial hypocalciuric hypercalcemia and related disorders Best Pract Res Clin Endocrinol Metab 32 609-619

[3] Shoback DM(2001)The prevalence of familial hypocalciuric hypercalcemia Calcif Tissue Int 68 216-218

[4] Hinnie J(2008)Discriminative power of three indices of renal calcium excretion for the distinction between familial hypocalciuric hypercalcaemia and primary hyperparathyroidism: a follow-up study on methods Clin Endocrinol (Oxf) 69 713-720

[5] Bell E(1989)Familial benign (hypocalciuric) hypercalcemia. A troublesome mimic of mild primary hyperparathyroidism Endocrinol Metab Clin North Am 18 723-740

[6] McKillop E(2015)Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Genet Med 17 405-424

[7] Gallacher S(2017)Calcimimetic use in familial hypocalciuric hypercalcemia-a perspective in endocrinology J Clin Endocrinol Metab 102 3933-3936

[8] Christensen SE(2000)Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia Hum Mutat 16 281-296

[9] Nissen PH(2012)Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites Hum Mol Genet 21 2768-2778

[10] Vestergaard P(1996)Functional characterization of calcium-sensing receptor mutations expressed in human embryonic kidney cells J Clin Invest 98 1860-1866