Somatic Mosaicism of NF2 Gene Mutation with Constitutional NF1 Gene Mutation in Neurofibromatosis Type 2: a Case Report

2020 ◽  
Vol 66 (11/2020) ◽  
Author(s):  
Soo Yoo ◽  
Yong-Soon Hwang
Keyword(s):  
Case Report ◽  
Gene Mutation ◽  
Somatic Mosaicism ◽  
Neurofibromatosis Type ◽  
Neurofibromatosis Type 2 ◽  
Nf2 Gene ◽  
Nf1 Gene

Neurofibromatosis type 2 attributable to gonosomal mosaicism in a clinically normal mother, and identification of seven novel mutations in the NF2 gene

2000 ◽  
Vol 107 (4) ◽  
pp. 366-371 ◽  
Author(s):  
Roberta Sestini ◽  
Rossella Vivarelli ◽  
Paolo Balestri ◽  
Franco Ammannati ◽  
Enrico Montali ◽  
...  
Keyword(s):  
Neurofibromatosis Type ◽  
Neurofibromatosis Type 2 ◽  
Novel Mutations ◽  
Nf2 Gene ◽  
Clinically Normal

scholarly journals Charcot-Marie-Tooth (CMT)-like polyneuropathy revealing neurofibromatosis type 2: A case report and review of the literature

2019 ◽  
Vol 175 (7-8) ◽  
pp. 486-489
Author(s):  
A. Pegat ◽  
F. Ducray ◽  
S. Jeannin-Mayer ◽  
E. Jouanneau ◽  
S. Pinson ◽  
...  
Keyword(s):  
Case Report ◽  
Neurofibromatosis Type ◽  
Neurofibromatosis Type 2 ◽  
Review Of The Literature ◽  
Charcot Marie Tooth

PO180 Mosaicism in neurofibromatosis type 2: a case report

2017 ◽  
Vol 88 (Suppl 1) ◽  
pp. A59.1-A59
Author(s):  
Dimitrios Apostolopoulos ◽  
MayYung Tiet ◽  
Jithin Samuel George
Keyword(s):  
Case Report ◽  
Neurofibromatosis Type ◽  
Neurofibromatosis Type 2

Screening for mutations in the neurofibromatosis type 2 (NF2) gene in sporadic meningiomas

1996 ◽  
Vol 97 (5) ◽  
pp. 632-637 ◽  
Author(s):  
Lucia Rosaria De Vitis ◽  
Andrea Tedde ◽  
Francesca Vitelli ◽  
Franco Ammannati ◽  
Pasquale Mennonna ◽  
...  
Keyword(s):  
Neurofibromatosis Type ◽  
Neurofibromatosis Type 2 ◽  
Nf2 Gene
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