scholarly journals A Family Diagnosed as MEN2A with a Rare Mutation D631Y in RET Oncogene

2016 ◽  
Author(s):  
O Aldemir ◽  
M Ozsan ◽  
H Gökce ◽  
I Ustun ◽  
S Okuyucu ◽  
...  
Keyword(s):  
Rare Mutation ◽  
Ret Oncogene

scholarly journals First reported case in Ireland of MEN2A due to a rare mutation in exon 8 of the RET oncogene

2013 ◽  
Vol 2013 ◽  
Author(s):  
R Casey ◽  
S Prendeville ◽  
C Joyce ◽  
D O'Halloran
Keyword(s):  
Genetic Analysis ◽  
Genetic Mutation ◽  
List Type ◽  
Cell Hyperplasia ◽  
Rare Mutation ◽  
C Cell Hyperplasia ◽  
Rare Gene ◽  
Ret Oncogene ◽  
Diagnostic Work ◽  
Work Up

Summary We present the case of a 30-year-old female who was diagnosed with hereditary phaeochromocytoma secondary to a rare gene mutation in exon 8 of the RET oncogene. This genetic mutation was picked up as part of an extended genetic screen using a method known as next generation sequencing. Detection of this genetic mutation prompted further screening for the manifestation of multiple endocrine neoplasia type 2A (MEN2A). The patient subsequently underwent a thyroidectomy with histology confirming C-cell hyperplasia. Learning points Genetic analysis is an important step in the diagnostic work up of phaeochromocytoma. Extended genetic analysis is important when there is a strong suspicion of hereditary phaeochromocytoma. Mutations in exon 8 of the RET gene are associated with phaeochromocytoma as part of MEN2A syndrome.

Osteogenesis imperfecta type V due to a rare mutation c.119C> T in the IFITM5: A case report

2020 ◽  
Author(s):  
Tatiana Grebennikova ◽  
Alina Gavrilova ◽  
Anatoly Tiulpakov ◽  
Natalia Tarbaeva ◽  
Galina Melnichenko ◽  
...  
Keyword(s):  
Case Report ◽  
Osteogenesis Imperfecta ◽  
Osteogenesis Imperfecta Type ◽  
Rare Mutation ◽  
Type V

scholarly journals A Japanese Case of CADASIL with a Rare Mutation in Exon 24 of the NOTCH3 Gene

2018 ◽  
Vol 57 (20) ◽  
pp. 3011-3014 ◽  
Author(s):  
Yuka Ebihara ◽  
Hitoshi Mochizuki ◽  
Nobuyuki Ishii ◽  
Ikuko Mizuta ◽  
Kazutaka Shiomi ◽  
...  
Keyword(s):  
Rare Mutation ◽  
Japanese Case ◽  
I Gene

Sickle cell disease associated with thalassemia; description of a rare mutation

2021 ◽  
Author(s):  
Sergio Felipe Pinzón Mariño ◽  
Paloma Ropero Gradilla ◽  
González Fernández Fernando Ataúlfo ◽  
Ana María Villegas Martínez ◽  
Silvia Méndez Martínez ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Cell Disease ◽  
Rare Mutation

scholarly journals Homozygosity by descent for a rare mutation in the myophosphorylase gene is associated with variable phenotypes in a Druze family with McArdle disease.

1997 ◽  
Vol 34 (5) ◽  
pp. 391-394 ◽  
Author(s):  
S Iyengar ◽  
H Kalinsky ◽  
S Weiss ◽  
M Korostishevsky ◽  
M Sadeh ◽  
...  
Keyword(s):  
Rare Mutation ◽  
Mcardle Disease

A case of milky serum in neonate with rare mutation of lipoprotein lipase

2021 ◽  
Vol 10 (2) ◽  
pp. 135
Author(s):  
R Peter ◽  
B Shreeshruthi ◽  
G Saravanan ◽  
VS Subburaman
Keyword(s):  
Lipoprotein Lipase ◽  
Rare Mutation
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