Article
Heterogeneity in clinical manifestation of autosomal dominant neurohypophyseal diabetes insipidus caused by a mutation encoding Ala-1-->Val in the signal peptide of the arginine vasopressin/neurophysin II/copeptin precursor.
The Journal of clinical endocrinology and metabolism - 1 Jan 1997
Repaske D R, Medlej R, Gültekin E K, Krishnamani M R, Halaby G, Findling J W, Phillips J A
Abstract excerpt
Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) is a familial form of diabetes insipidus due to progressive vasopressin deficiency with onset typically at 1-6 yr of age. Affected individuals demonstrate specific degeneration of the vasopressinergic magnocellular neurons in the hypo...
Topics
- Alanine
- Arginine Vasopressin
- DNA Restriction Enzymes
- Diabetes Insipidus
- Female
- Humans
- Infant
- Male
- Middle Aged
- Mutation
- Neurophysins
- Pedigree
- Pituitary Gland, Posterior
- Polymerase Chain Reaction