SAT-093 Two Cases of Autosomal Dominant Familial Central Diabetes Insipidus: A Novel Variant in Neurophysin II Region of AVP Gene

Central diabetes insipidus (CDI) is a disorder of water balance characterized by polyuria and polydipsia owing to partial or complete deficiency of the antidiuretic hormone, arginine vasopressin (AVP). Although non-hereditary causes are the most frequent, Familial CDI forms, due to heterozygous muta...

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Detalles Bibliográficos
Autores principales: Ramirez, Biochemist, Pablo, Vaiani, Elisa, Marino, Biochemist, Roxana Marcela, Perez-Garrido, Biochemist, Natalia Isabel, Morales, Cintia, Rubio, Betty, Rivarola, Marco A, Belgorosky, Alicia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Pediatric Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7207637/
http://dx.doi.org/10.1210/jendso/bvaa046.1794

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7207637/
http://dx.doi.org/10.1210/jendso/bvaa046.1794

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