Skewed X-chromosome inactivation causing diagnostic misinterpretation in congenital nephrogenic diabetes insipidus - Færch, Mia; corydon, Thomas J.; Rittig, Søren; Christensen, Jane H.; Hertz, Jens Michael; Jendle, Johan (Scandinavian journal of urology and nephrology, 2010)
Keywords: Adult; Aquaporin 2 - genetics; Arginine vasopressin receptor 2; Biological and medical sciences; congenital nephrogenic diabetes insipidus; Diabetes Insipidus - genetics; Diabetes Insipidus, Nephrogenic; Female; Gene Silencing; Genes, X-Linked - genetics; Genetic Diseases, X-Linked - genetics; Humans; Kidneys; Male; Medical sciences; Molecular Sequence Data; Mutation, Missense; Nephrology. Urinary tract diseases; Nucleic Acid Amplification Techniques; Pedigree; phenotype; Restriction Mapping; skewed X-chromosome inactivation; Urinary system involvement in other diseases. Miscellaneous; Kidney disease; Nephrology; Arginine vasopressin receptor 2; Urinary system disease; Congenital; Nephrogenic diabetes insipidus; Inactivation; Neuropeptide; Urology; Vasopressin; congenital nephrogenic diabetes insipidus; Phenotype; Arginine; Aminoacid; Neurohypophyseal hormone; X-Chromosome; Diagnosis; Biological receptor; skewed X-chromosome inactivation