scholarly journals 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

2021 ◽  
Author(s):  
Vityala Yethindra ◽  
Tugolbai Tagaev ◽  
Elmira Mamytova ◽  
Elmira Mainazarova ◽  
Cholpon Dzhumakova ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Rare Case ◽  
Neurofibromatosis Type ◽  
Chromosome 17 ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
Submicroscopic Deletion

scholarly journals 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

2021 ◽  
Author(s):  
Vityala Yethindra ◽  
Tugolbai Tagaev ◽  
Elmira Mainazarova ◽  
Cholpon Dzhumakova ◽  
Asel Namazbekova
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Rare Case ◽  
Neurofibromatosis Type ◽  
Chromosome 17 ◽  
Chromosomal Microarray ◽  
Severe Phenotype ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
Submicroscopic Deletion

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.

Neurofibromatosis type 1 without cutaneous neurofibromas: a rare genotype-phenotype correlation?

2020 ◽  
Vol 30 (5) ◽  
pp. 608-609
Author(s):  
Tokimasa Hida ◽  
Masashi Idogawa ◽  
Aki Ishikawa ◽  
Miyako Mizukami ◽  
Junji Kato ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
Cutaneous Neurofibromas

scholarly journals Arg1809 substitution in neurofibromin: further evidence of a genotype–phenotype correlation in neurofibromatosis type 1

2015 ◽  
Vol 23 (11) ◽  
pp. 1460-1461 ◽  
Author(s):  
Claudia Santoro ◽  
Anna Maietta ◽  
Teresa Giugliano ◽  
Daniela Melis ◽  
Silverio Perrotta ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

scholarly journals A rare case of internal jugular vein aneurysm with massive hemorrhage in neurofibromatosis type 1

2014 ◽  
Vol 23 (4) ◽  
pp. 244-247 ◽  
Author(s):  
Tsubasa Hiraki ◽  
Michiyo Higashi ◽  
Yuko Goto ◽  
Ikumi Kitazono ◽  
Seiya Yokoyama ◽  
...  
Keyword(s):  
Internal Jugular Vein ◽  
Neurofibromatosis Type 1 ◽  
Rare Case ◽  
Jugular Vein ◽  
Neurofibromatosis Type ◽  
Massive Hemorrhage

scholarly journals A rare case of neurofibromatosis type 1

2016 ◽  
Vol 5 (3) ◽  
pp. 222 ◽  
Author(s):  
VijayaPrasad Balda ◽  
SivaRama Krishna ◽  
Satyavaraprasd Kadali
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Rare Case ◽  
Neurofibromatosis Type
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