Open AccessA rare case of patient with neurofibromatosis type 1 in a genotype–phenotype correlation revealing a submicroscopic deletion on the long arm of chromosome 17
Author(s) -
Yethindra Vityala,
Tagaev Tugolbai,
Mamytova Elmira,
Mainazarova Elmira,
Dzhumakova Cholpon,
Namazbekova Asel
Publication year - 2021
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.4047
Subject(s) - neurofibromatosis , phenotype , correlation , genotype , medicine , chromosome , genetics , gene , genotype phenotype distinction , biology , geometry , mathematics
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.