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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Principais autores:	Ismail Dundar, Emine Camtosun, Mustafa Dogan, Leman Kayas, Nurdan Ciftci, Aysehan Akinci
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Society of Turaz Bilim 2022-12-01
Colecção:	Medicine Science
Assuntos:	hypercalcemia familial hypocalciuric hypercalcemia calcium-sensing receptor (casr)
Acesso em linha:	http://www.ejmanager.com/fulltextpdf.php?mno=106073
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