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Growth retardation in untreated autosomal dominant familial neurohypophyseal diabetes insipidus caused by one recurring and two novel mutations in the vasopressin-neurophysin II gene

Brachet, Cécile and Birk, Julia and Christophe, Catherine and Tenoutasse, Sylvie and Velkeniers, Brigitte and Heinrichs, Claudine and Rutishauser, Jonas. (2011) 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, Vol. 164, H. 2. S. 179-187.

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Official URL: http://edoc.unibas.ch/dok/A6005106

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Abstract

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 AVP analog. If unlimited access to water is provided, prognosis is usually good even in the absence of specific treatment. In this study, we describe three families with adFNDI, in which growth failure was a prominent complaint, on the clinical and molecular level.
Faculties and Departments:03 Faculty of Medicine > Bereich Medizinische Fächer (Klinik) > Endokrinologie / Diabetologie
03 Faculty of Medicine > Departement Klinische Forschung > Bereich Medizinische Fächer (Klinik) > Endokrinologie / Diabetologie
UniBasel Contributors:Rutishauser, Jonas
Item Type:Article, refereed
Bibsysno:Link to catalogue
Publisher:BioScientifica
ISSN:0804-4643
Note:Publication type according to Uni Basel Research Database: Journal article
Identification Number:
Last Modified:27 Feb 2014 15:45
Deposited On:27 Feb 2014 15:45

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