Nephrogenic diabetes insipidus and Werdnig-Hoffmann disease in a child: an unusual association.
AUTOR(ES)
Bernasconi, S
RESUMO
The unusual association of Werdnig-Hoffmann disease and nephrogenic diabetes insipidus in a 5-month-old child is described for the first time. The association is casual, considering the different pathways of genetical transmission in these two diseases. The possibility of identifying the heterozygote is discussed and it appears to be limited to nephrogenic diabetes insipidus.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1013681Documentos Relacionados
- A hungarian study on Werdnig-Hoffmann disease.
- Prenatal prediction of Werdnig-Hoffmann disease using linked polymorphic DNA probes.
- Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease.
- The Gene Frequency of Acute Werdnig-Hoffmann Disease (SMA Type 1). A Total Population Survey in North-East England
- Anestesia venosa total (AVT) em lactente com doença de Werdnig-Hoffmann: relato de caso
