A Novel Missense Mutation of Arginine Vasopressin Receptor 2 in a Chinese Family with Congenital Nephrogenic Diabetes Insipidus: X-Chromosome Inactivation in Female CNDI Patients with Heterozygote 814A>G Mutation

A Novel Mutation in the Arginine Vasopressin Receptor 2 Gene Causing Congenital Nephrogenic Diabetes Insipidus

(2018) Aslı Celebi Tayfur et al.   Journal of Clinical Research in Pediatric Endocrinology

Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study

(2015) Alejandro García Castaño et al.   EUROPEAN JOURNAL OF PEDIATRICS

Pathologies du récepteur V2 de la vasopressine : diabète insipide néphrogénique congénital et syndrome d’antidiurèse inappropriée néphrogénique

(2014) Denis Morin   Nephrologie & Therapeutique

Novel AQP2 mutation causing congenital nephrogenic diabetes insipidus: challenges in management during infancy

(2013) Rottanat Rugpolmuang et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

Functional characterization of novel loss-of-function mutations in the vasopressin type 2 receptor gene causing nephrogenic diabetes insipidus

(2011) I. Boselt et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Skewed X-chromosome inactivation causing diagnostic misinterpretation in congenital nephrogenic diabetes insipidus

(2010) Mia Færch et al.   SCANDINAVIAN JOURNAL OF UROLOGY AND NEPHROLOGY

X-linked hypohidrotic ectodermal dysplasia. Genetic and dental findings in 67 Danish patients from 19 families

(2009) MO Lexner et al.   CLINICAL GENETICS

Correlation between Clinical Phenotypes and X-inactivation Patterns in Six Female Carriers with Heterozygote Vasopressin Type 2 Receptor Gene Mutations

(2008) Mari SATOH et al.   ENDOCRINE JOURNAL