scholarly journals Clinical Features,DYT1Mutation Screening and Genotype-Phenotype Correlation in Patients with Dystonia from Iran

2012 ◽  
Vol 21 (5) ◽  
pp. 462-466 ◽  
Author(s):  
Mohammad Taghi Akbari ◽  
Zahra Zand ◽  
Gholam Ali Shahidi ◽  
Mohammad Hamid
Keyword(s):  
Clinical Features ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

scholarly journals The Prevalence of Clinical Features in Patients with Aarskog–Scott Syndrome and Assessment of Genotype-Phenotype Correlation: A Systematic Review

2021 ◽  
Vol 2021 ◽  
pp. 1-9
Author(s):  
Victor Zanetti Drumond ◽  
Lucas Sousa Salgado ◽  
Camila Sousa Salgado ◽  
Vitor Augusto de Lima Oliveira ◽  
Eliene Magda de Assis ◽  
...  
Keyword(s):  
Systematic Review ◽  
Clinical Features ◽  
Clinical Manifestations ◽  
Rare Condition ◽  
Clinical Findings ◽  
Pathogenic Variant ◽  
Genitourinary Tract ◽  
Direct Relation ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

Aarskog–Scott syndrome is a genetically and clinically heterogeneous rare condition caused by a pathogenic variant in the FGD1 gene. A systematic review was carried out to analyse the prevalence of clinical manifestations found in patients, as well as to evaluate the genotype-phenotype correlation. The results obtained show that clinical findings of the craniofacial, orthopaedic, and genitourinary tract correspond to the highest scores of prevalence. The authors reclassified the primary, secondary, and additional criteria based on their prevalence. Furthermore, it was possible to observe, in accordance with previous reports, that the reported phenotypes do not present a direct relation to the underlying genotypes.

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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