Nephrogenic diabetes insipidus and Werdnig-Hoffmann disease in a child: an unusual association

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 heterozygot...

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Bibliographic Details
Published in:Journal of medical genetics 1978-06, Vol.15 (3), p.219-221
Main Authors: Bernasconi, S, Pezzani, C, Balestrazzi, P, Marbini, A
Format: Article
Language:English
Subjects:
Diabetes insipidus
Diabetes Insipidus - complications
Diabetes Insipidus - genetics
Genes, Recessive
Heterozygote
Heterozygotes
Humans
Infant
Male
Paralysis - complications
Paralysis - genetics
Pedigree
Research Article
Citations: Items that this one cites
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Summary: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.
ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.15.3.219