Article
Growth retardation in untreated autosomal dominant familial neurohypophyseal diabetes insipidus caused by one recurring and two novel mutations in the vasopressin-neurophysin II gene.
European journal of endocrinology - 1 Feb 2011
Brachet Cécile, Birk Julia, Christophe Catherine, Tenoutasse Sylvie, Velkeniers Brigitte, Heinrichs Claudine, Rutishauser Jonas
Abstract excerpt
OBJECTIVE: Autosomal dominant familial neurohypophyseal diabetes insipidus (adFNDI), a disorder caused by mutations in the vasopressin (AVP)-neurophysin II (NPII) gene, manifests gradually during early childhood with progressive polyuria and polydipsia. Patients are usually treated with synthetic...
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