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Exploring associations between constipation, severity of neurofibromatosis type 1 and NF1 mutational spectrum

Neurofibromatosis type 1 (NF1) is inherited in an autosomal dominant manner and is a rather common rare disease. Until recently, studies on gastrointestinal symptoms in patients with NF1 have been few and mostly described as case reports. In three previously published studies, the frequency of const...

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Podrobná bibliografie
Vydáno v:Sci Rep
Hlavní autoři: Ejerskov, Cecilie, Gaustadnes, Mette, Ostergaard, John R., Krogh, klaus, Thorsen, Kasper, Borglum, Anders D., Haagerup, Annette
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group UK 2021
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8080678/
https://ncbi.nlm.nih.gov/pubmed/33911094
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-021-87686-x
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