A rare case of patient with neurofibromatosis type 1 in a genotype–phenotype correlation revealing a submicroscopic deletion on the long arm of chromosome 17

This paper details a case of neurofibromatosis type 1 (NF1) in a genotype–phenotype correlation, and the complexity of pathogenic variants of NF1 gene make correlation difficult. Establishing correlation is useful for targeted therapeutic intervention.

Detalles Bibliográficos
Autores principales: Yethindra, Vityala, Tagaev, Tugolbai, Mamytova, Elmira, Mainazarova, Elmira, Dzhumakova, Cholpon, Namazbekova, Asel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8077389/
https://www.ncbi.nlm.nih.gov/pubmed/33936702
http://dx.doi.org/10.1002/ccr3.4047
Descripción
Sumario:This paper details a case of neurofibromatosis type 1 (NF1) in a genotype–phenotype correlation, and the complexity of pathogenic variants of NF1 gene make correlation difficult. Establishing correlation is useful for targeted therapeutic intervention.

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