Clinical features and disease severity in patients with mosaic neurofibromatosis type 1: a single-center study and literature review.

Ejerskov, C; Raundahl, M; Gregersen, P A; Handrup, M M

Ejerskov, C; Raundahl, M; Gregersen, P A; Handrup, M M.

Afiliação

Ejerskov C; Centre for Rare Diseases, Department of Paediatrics and Adolescent Medicine, Aarhus University Hospital, Palle Juul-Jensens Boulevard 99, 8200, Aarhus N, Denmark. cecilie@ejerskov.dk.
Raundahl M; Centre for Rare Diseases, Department of Paediatrics and Adolescent Medicine, Aarhus University Hospital, Palle Juul-Jensens Boulevard 99, 8200, Aarhus N, Denmark.
Gregersen PA; Centre for Rare Diseases, Department of Paediatrics and Adolescent Medicine, Aarhus University Hospital, Palle Juul-Jensens Boulevard 99, 8200, Aarhus N, Denmark.
Handrup MM; Department of Clinical Genetics and Centre for Rare Diseases, Department of Paediatrics and Adolescent Medicine, Aarhus University Hospital, Brendstrupgaardsvej 21 C, 8200, Aarhus N, Denmark.

Orphanet J Rare Dis ; 16(1): 180, 2021 04 14.

Article em En | MEDLINE | ID: mdl-33853649

Assuntos

Neurofibroma Plexiforme; Neurofibromatose 1; Adulto; Criança; Feminino; Seguimentos; Humanos; Neurofibromatose 1/complicações; Neurofibromatose 1/diagnóstico; Estudos Retrospectivos; Índice de Gravidade de Doença

Palavras-chave

Mosaic; Mosaicism; NF1 gene; NF1 guideline; Neurofibroma; Neurofibromatosis type 1; Plexiform neurofibroma

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neurofibromatose 1 / Neurofibroma Plexiforme Tipo de estudo: Diagnostic_studies / Guideline / Observational_studies / Prognostic_studies / Risk_factors_studies / Systematic_reviews Limite: Adult / Child / Female / Humans Idioma: En Revista: Orphanet J Rare Dis Assunto da revista: MEDICINA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Dinamarca País de publicação: Reino Unido

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