Two novel mutations of the vasopressin gene associated with familial diabetes insipidus and identification of an asymptomatic carrier infant.

Abstract excerpt

Familial diabetes insipidus (FDI) is a syndrome of central vasopressin deficiency that is inherited in an autosomal dominant manner and that typically becomes clinically apparent in the first decade of life. Two novel mutations of the vasopressin gene have been identified in two previously unstud...

Topics

• Diabetes Insipidus
• Exons
• Genetic Carrier Screening
• Humans
• Infant
• Male
• Mutation
• Pedigree
• Polymorphism, Restriction Fragment Length
• Vasopressins