Exome Sequencing Identifies a Novel FBN1 Variant in a Pakistani Family with Marfan Syndrome That Includes Left Ventricle Diastolic Dysfunction

Farooqi, N., Metherell, L. A., Schrauwen, I., Acharya, A., Khan, Q., Nouel Saied, L. M., Ali, Y., El-Serehy, H. A., Jalil, F., & Leal, S. M. (2021). Exome Sequencing Identifies a Novel FBN1 Variant in a Pakistani Family with Marfan Syndrome That Includes Left Ventricle Diastolic Dysfunction. Genes, 12(12), 1915. https://doi.org/10.3390/genes12121915
Authors:
Nadia Farooqi
Louise A Metherell
Isabelle Schrauwen
Anushree Acharya
Qayum Khan
Liz M Nouel Saied
Yasir Ali
Hamed A El-Serehy
Fazal Jalil
Suzanne M Leal
Affiliated Authors:
Isabelle Schrauwen
Anushree Acharya
Liz M Nouel Saied
Suzanne M Leal
Columbia Affiliation:
Subjects:
Genetic and Molecular Studies of Connective Tissue Disorders (OpenAlex Topic)
Diagnosis and Management of Hypertrophic Cardiomyopathy (OpenAlex Topic)
Management of Valvular Heart Disease (OpenAlex Topic)
Fibrillin-1 (MeSH)
Cardiomyopathies (MeSH)
Genetic Predisposition to Disease (MeSH)
Marfan Syndrome (MeSH)
Mutation (MeSH)
Ventricular Dysfunction, Left (MeSH)
Author Keywords:
cardiovascular diseases
dilated cardiomyopathy
marfan syndrome
left ventricular diastolic dysfunction
whole exome sequencing
elink
Publication Type:
Article
Unique ID:
10.3390/genes12121915
PMID:
34946863
DOI:
10.3390/genes12121915
Journal:
Genes
Publication Date:
Data Source:
PubMed
Source Link:
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Record Created: