Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a novel missense mutation in AVP gene in a large Italian kindred

PURPOSE: Familial neurohypophysial diabetes insipidus (FNDI), commonly caused by autosomal dominant arginine vasopressin (AVP) mutations, is a rare condition in which vasopressin fails in regulating body’s level of water with final polyuria and polydipsia. Genetic testing in familial cases of FNDI s...

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Detalles Bibliográficos
Autores principales: Marzocchi, Carlotta, Cantara, Silvia, Sagnella, Alfonso, Castagna, Maria Grazia, Capezzone, Marco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2021
Materias:
Endocrine Genetics/Epigenetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8440291/
https://www.ncbi.nlm.nih.gov/pubmed/34319541
http://dx.doi.org/10.1007/s12020-021-02830-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8440291/
https://www.ncbi.nlm.nih.gov/pubmed/34319541
http://dx.doi.org/10.1007/s12020-021-02830-x

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