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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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Detalhes bibliográficos
Publicado no:Sci Rep
Main Authors: Ejerskov, Cecilie, Gaustadnes, Mette, Ostergaard, John R., Krogh, klaus, Thorsen, Kasper, Borglum, Anders D., Haagerup, Annette
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2021
Assuntos:
Acesso em linha: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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