Article
Familial neurohypophysial diabetes insipidus in a large Dutch kindred: effect of the onset of diabetes on growth in children and cell biological defects of the mutant vasopressin prohormone.
The Journal of clinical endocrinology and metabolism - 1 Jul 2001
Nijenhuis M, van den Akker E L, Zalm R, Franken A A, Abbes A P, Engel H, de Wied D, Burbach J P
Abstract excerpt
Familial neurohypophysial diabetes insipidus (FNDI) is an autosomal dominant trait in which expression of a mutant vasopressin prohormone reduces vasopressin production. We investigated the NP85 Cys-->Gly mutant vasopressin prohormone in a large kindred in The Netherlands. We demonstrate that growth retardation is an important early sign in two children from this kindred, which recuperates by substitution therapy...
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