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
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2021
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Acceso en línea:https://doaj.org/article/508979825b454966a497aed54ffadbfa
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