Exploring associations between constipation, severity of neurofibromatosis type 1 and NF1 mutational spectrum
Abstract 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...
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Autores principales: | Cecilie Ejerskov, Mette Gaustadnes, John R. Ostergaard, klaus Krogh, Kasper Thorsen, Anders D. Borglum, Annette Haagerup |
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Formato: | article |
Lenguaje: | EN |
Publicado: |
Nature Portfolio
2021
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Materias: | |
Acceso en línea: | https://doaj.org/article/508979825b454966a497aed54ffadbfa |
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