Utility of genetic testing in suspected familial cranial diabetes insipidus

AIM: Differentiating familial cranial diabetes insipidus (CDI) from primary polydipsia can be difficult. We report the diagnostic utility of genetic testing as a means of confirming or excluding this diagnosis. PATIENT AND METHODS: The index case presented at 3 months with polydipsia. He was diagnos...

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Detalles Bibliográficos
Autores principales: Srinivasan, Ramesh, Ball, Stephen, Ward-Platt, Martin, Bourn, David, McAnulty, Ciaron, Cheetham, Tim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioScientifica 2013
Materias:
Error in Diagnosis/Pitfalls and Caveats
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3922071/
https://www.ncbi.nlm.nih.gov/pubmed/24616780
http://dx.doi.org/10.1530/EDM-13-0068

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3922071/
https://www.ncbi.nlm.nih.gov/pubmed/24616780
http://dx.doi.org/10.1530/EDM-13-0068

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