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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
- 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