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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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Detalles Bibliográficos
Autores principales: Ejerskov, Cecilie, Gaustadnes, Mette, Ostergaard, John R., Krogh, klaus, Thorsen, Kasper, Borglum, Anders D., Haagerup, Annette
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8080678/
https://www.ncbi.nlm.nih.gov/pubmed/33911094
http://dx.doi.org/10.1038/s41598-021-87686-x