Persistent hypercalcemia with similar familial Hypocalciuric hypercalcemia features: a case report and literature review.
Zahedi M, Hizomi Arani R, Rafati M, Amouzegar A, Hadaegh F.
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Familial hypocalciuric hypercalcaemia type 3: AP2S1 missense mutation.
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BMJ Case Rep. 2020 Nov 9;13(11):e236631. doi: 10.1136/bcr-2020-236631.
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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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Turk J Pediatr. 2023;65(5):853-861. doi: 10.24953/turkjped.2022.1040.
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Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.
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Nat Genet. 2013 Jan;45(1):93-7. doi: 10.1038/ng.2492. Epub 2012 Dec 9.
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Functional Assessment of Calcium-Sensing Receptor Variants Confirms Familial Hypocalciuric Hypercalcemia.
Mullin BH, Pavlos NJ, Brown SJ, Walsh JP, McKellar RA, Wilson SG, Ward BK.
J Endocr Soc. 2022 Feb 18;6(5):bvac025. doi: 10.1210/jendso/bvac025. eCollection 2022 May 1.