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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

Authors :
Elmira Mainazarova
Cholpon Dzhumakova
Tugolbai Tagaev
Asel Namazbekova
Vityala Yethindra
Publication Year :
2021
Publisher :
Authorea, Inc., 2021.

Abstract

We are reporting a case of neurofibromatosis type 1 in a genotype-phenotype correlation and chromosomal microarray test revealed a submicroscopic deletion on the long arm of chromosome 17, which is associated with a more severe phenotype. The presence of a more severe phenotype warrants precise monitoring of complications.

Details

Database :
OpenAIRE
Accession number :
edsair.doi...........d347300664506821fe7477c98784f907
Full Text :
https://doi.org/10.22541/au.161281374.44664936/v1