A Partial Phenotype of adFNDI Related to the Signal Peptide c.55G>A Variant of the <i>AVP</i> Gene

A Partial Phenotype of adFNDI Related to the Signal Peptide c.55G>A Variant of the <i>AVP</i> Gene

The autosomal dominant familial form of neurohypophyseal diabetes insipidus (adFNDI) is a rare inherited endocrine disorder characterized by hypotonic polyuria, severe thirst and polydipsia, which results from a deficient neurosecretion of the antidiuretic hormone, also known as arginine vasopressin...

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Bibliographic Details
Main Authors: Vera Tocci, Maria Mirabelli, Stefania Giuliano, Eusebio Chiefari, Jane Hagelskjær Knudsen, Helene Kvistgaard, Domenico La Torre, Antonio Aversa, Daniela Patrizia Foti, Jane Hvarregaard Christensen, Antonio Brunetti
Format: Article
Language:English
Published: MDPI AG 2021-02-01
Series:Endocrines
Subjects:
AVP
signal peptide
adFNDI
rare endocrine diseases
gender medicine
Online Access:https://www.mdpi.com/2673-396X/2/1/4

Internet

https://www.mdpi.com/2673-396X/2/1/4

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