MON-255 A Novel Variant of SLC34A1 Gene in an Infant with Idiopathic Infantile Hypercalcemia

Bacground & objective: Idiopathic infantile hypercalcemia is one of rare diseases characterizing hypercalcemia in infancy. Renal phosphate absorption in proximal tubules plays a very important role in the phosphate and calcium homeostasis. SLC34A1 is known a key regulator of renal phosphate reab...

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Detalles Bibliográficos
Autores principales: Moon, Jungeun, Lee, Gi-Min, Lee, Su-Jeong, Ko, Cheol-Woo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Endocrine Society 2019
Materias:
Pediatric Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6550932/
http://dx.doi.org/10.1210/js.2019-MON-255

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6550932/
http://dx.doi.org/10.1210/js.2019-MON-255

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