Novel de novo AVPR2 Variant in a Patient with Congenital Nephrogenic Diabetes Insipidus

Early diagnosis and treatment of congenital nephrogenic diabetes insipidus (CNDI) are essential due to the risk of intellectual disability caused by repeated episodes of dehydration and rapid rehydration. Timely genetic testing for disease-causing variants in the arginine vasopressin receptor 2 (AVP...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Shivani Joshi, Per Brandstrom, Niels Gregersen, Søren Rittig, Jane Hvarregaard Christensen
Formato: Artigo
Idioma:Inglês
Publicado em: Karger Publishers 2017-09-01
Colecção:Case Reports in Nephrology and Dialysis
Assuntos:
Vasopressin V2 receptor
Diagnostic testing
AVPR2
Congenital nephrogenic diabetes insipidus
De novo disease-causing variant
Acesso em linha:http://www.karger.com/Article/FullText/480009
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados