De novo a novel variant of CaSR gene in a neonate with congenital hypoparathyroidism

Autosomal-dominant hypocalcemia with hypercalciuria (ADHH) is a genetic disease characterized by hypoparathyroidism with hypercalciuria. Most patients with ADHH have calcium-sensing receptor (CaSR) gene mutations. The CaSR gene controls parathyroid secretions, and mutations in this gene can be detec...

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Detalles Bibliográficos
Autores principales: Moon, Jung-Eun, Lee, Su-Jeong, Park, Suk-Hyun, Kim, Jinsup, Jin, Dong-Kyu, Ko, Cheol Woo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Society of Pediatric Endocrinology 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057017/
https://www.ncbi.nlm.nih.gov/pubmed/29969884
http://dx.doi.org/10.6065/apem.2018.23.2.107

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057017/
https://www.ncbi.nlm.nih.gov/pubmed/29969884
http://dx.doi.org/10.6065/apem.2018.23.2.107

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