A girl diagnosed with familial hypocalciuric hypercalcemia with heterozygous p.Cys575Tyr variation in the CaSR gene

A girl diagnosed with familial hypocalciuric hypercalcemia with heterozygous p.Cys575Tyr variation in the CaSR gene

Familial hypocalciuric hypercalcemia (FHH) is a benign disease associated with heterozygous inactivating mutations in the calcium-sensing receptor (CaSR) gene. This article presents a girl with heterozygous p.Cys575Tyr variation in the CaSR gene. The serum calcium level of a 9.2-year-old girl was 12...

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Bibliographic Details
Main Authors: Ismail Dundar, Emine Camtosun, Mustafa Dogan, Leman Kayas, Nurdan Ciftci, Aysehan Akinci
Format: Article
Language:English
Published: Society of Turaz Bilim 2022-12-01
Series:Medicine Science
Subjects:
hypercalcemia
familial hypocalciuric hypercalcemia
calcium-sensing receptor (casr)
Online Access:http://www.ejmanager.com/fulltextpdf.php?mno=106073

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