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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...

詳細記述

保存先:
書誌詳細
出版年:J Med Genet
主要な著者: Bernasconi, S, Pezzani, C, Balestrazzi, P, Marbini, A
フォーマット: Artigo
言語:Inglês
出版事項: BMJ Publishing Group 1978
主題:
オンライン・アクセス:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1013681/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/671487/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.15.3.219
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