Infantile hypercalcemia with novel compound heterozygous mutation in SLC34A1 encoding renal sodium-phosphate cotransporter 2a: a case report

Idiopathic infantile hypercalcemia is characterized by hypercalcemia, dehydration, vomiting, and failure to thrive, and it is due to mutations in 24-hydroxylase (CYP24A1). Recently, mutations in sodium-phosphate cotransporter (SLC34A1) expressed in the kidney were discovered as an additional cause o...

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Detalles Bibliográficos
Autores principales: Kang, Seok Jin, Lee, Rosie, Kim, Heung Sik
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Society of Pediatric Endocrinology 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6449619/
https://www.ncbi.nlm.nih.gov/pubmed/30943683
http://dx.doi.org/10.6065/apem.2019.24.1.64

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6449619/
https://www.ncbi.nlm.nih.gov/pubmed/30943683
http://dx.doi.org/10.6065/apem.2019.24.1.64

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