scholarly journals A rare case of centronuclear myopathy with DNM2 mutation: genotype phenotype correlation

2017 ◽  
Vol 7 (2) ◽  
pp. 43-48 ◽  
Author(s):  
Amir Ghorbani Aghbolaghi ◽  
Mirna Lechpammer
Keyword(s):  
Rare Case ◽  
Centronuclear Myopathy ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

scholarly journals Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy

2012 ◽  
Vol 33 (6) ◽  
pp. 949-959 ◽  
Author(s):  
Johann Böhm ◽  
Valérie Biancalana ◽  
Elizabeth T. DeChene ◽  
Marc Bitoun ◽  
Christopher R. Pierson ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Mutation Spectrum ◽  
Centronuclear Myopathy ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
Dynamin 2

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.

A familial case of osteogenesis imperfecta: study of genotype-phenotype correlation

2013 ◽  
Author(s):  
Ponti Emanuela ◽  
Mihalich Alessandra ◽  
Broggi Francesca ◽  
Maria Di Blasio Anna ◽  
Luisa Bianchi Maria
Keyword(s):  
Osteogenesis Imperfecta ◽  
Familial Case ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

scholarly journals Genotype‐phenotype correlation identified a novel SARS‐CoV‐2 variant possibly linked to severe disease

2021 ◽  
Author(s):  
Tom Loney ◽  
Hamda Khansaheb ◽  
Sathishkumar Ramaswamy ◽  
Divinlal Harilal ◽  
Zulfa Omar Deesi ◽  
...  
Keyword(s):  
Severe Disease ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation
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