Case Report: Mosaicism of a novel nonsense variant in the neurofibromin gene underlies a mosaic generalized NF1 phenotype

Neurofibromatosis 1 (NF1) is a neurocutaneous syndrome characterized by multiple café-au-lait macules, cutaneous neurofibromas or plexiform neurofibromas, iris Lisch nodules, axillary and inguinal freckling. Mosaicism in NF1 can either present as a generalized disease, or in a localized (segmental)...

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Detalles Bibliográficos
Autores principales: Kwong, Hui Li, Tay, Yong-Kwang, Tan, Ene-Choo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: F1000 Research Limited 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8215559/
https://www.ncbi.nlm.nih.gov/pubmed/34164111
http://dx.doi.org/10.12688/f1000research.28052.2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8215559/
https://www.ncbi.nlm.nih.gov/pubmed/34164111
http://dx.doi.org/10.12688/f1000research.28052.2

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