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Diagnosis and Treatment of Hereditary Central Diabetes Insipidus in a Swiss Family With a Mutation in the AVP Gene
Hereditary central diabetes insipidus (CDI) is a genetic disorder characterized by polydipsia and polyuria. Most known mutations are located in the arginine-vasopressin (AVP) gene. Here, we describe a Swiss family with an autosomal dominant mutation in the AVP gene region encoding for the carrier pr...
Autores principales: | Wyniger, Lorena, Beuret, Nicole, Rutishauser, Jonas, Seelig, Eleonora |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10578377/ https://www.ncbi.nlm.nih.gov/pubmed/37908243 http://dx.doi.org/10.1210/jcemcr/luac023 |
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