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
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author Yethindra, Vityala
Tagaev, Tugolbai
Mamytova, Elmira
Mainazarova, Elmira
Dzhumakova, Cholpon
Namazbekova, Asel
author_facet Yethindra, Vityala
Tagaev, Tugolbai
Mamytova, Elmira
Mainazarova, Elmira
Dzhumakova, Cholpon
Namazbekova, Asel
author_sort Yethindra, Vityala
collection PubMed
description 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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spelling pubmed-80773892021-04-29 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 Yethindra, Vityala Tagaev, Tugolbai Mamytova, Elmira Mainazarova, Elmira Dzhumakova, Cholpon Namazbekova, Asel Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2021-03-15 /pmc/articles/PMC8077389/ /pubmed/33936702 http://dx.doi.org/10.1002/ccr3.4047 Text en © 2021 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Yethindra, Vityala
Tagaev, Tugolbai
Mamytova, Elmira
Mainazarova, Elmira
Dzhumakova, Cholpon
Namazbekova, Asel
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
title 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
title_full 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
title_fullStr 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
title_full_unstemmed 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
title_short 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
title_sort rare case of patient with neurofibromatosis type 1 in a genotype–phenotype correlation revealing a submicroscopic deletion on the long arm of chromosome 17
topic Case Reports
url 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
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