Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Genes - 28 Nov 2021

Farooqi Nadia, Metherell Louise A, Schrauwen Isabelle, Acharya Anushree, Khan Qayum, Nouel Saied Liz M, Ali Yasir, El-Serehy Hamed A, Jalil Fazal, Leal Suzanne M

Abstract excerpt

INTRODUCTION: Cardiomyopathies are diseases of the heart muscle and are important causes of heart failure. Dilated cardiomyopathy (DCM) is a common form of cardiomyopathy that can be acquired, syndromic or non-syndromic. The current study was conducted to explore the genetic defects in a Pakistani family with cardiac disease and features of Marfan's syndrome (MFS). METHODS: A family with left ventricle (LV)...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to Cardiomyopathies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Fibrillin-1

Share to Marfan Syndrome

Share to Pakistan

Share to Pedigree

Share to Ventricular Dysfunction, Left

Source

Open in PubMed Open full text

Identifiers

PMID: 34946863
DOI: 10.3390/genes12121915
PMCID: PMC8700962

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Exome Sequencing Identifies a Novel FBN1 Variant in a Pakistani Family with Marfan Syndrome That Includes Left Ventricle Diastolic Dysfunction.PMID 34946863Read ↗

Marfan syndrome: whole-exome sequencing reveals de novo mutations, second gene and genotype-phenotype correlations in the Chinese population.Semantic proximity Read ↗

Genotype FBN1/phenotype relationship in a cohort of patients with Marfan syndrome.Semantic proximity Read ↗

Novel FBN1 mutations are responsible for cardiovascular manifestations of Marfan syndrome.Semantic proximity Read ↗

Combining clinical examination with exome sequencing for the diagnosis and treatment of Marfan syndrome: a case series of 6 families from China.Semantic proximity Read ↗

Whole exome sequencing identifies FBN1 mutations in two patients with early‑onset type B aortic dissection.Semantic proximity Read ↗

Identification and characterization of a novel FBN1 gene variant in an extended family with variable clinical phenotype of Marfan syndrome.Semantic proximity Read ↗

Rare genetic mutations in Pakistani patients with dilated cardiomyopathy.Semantic proximity Read ↗

A novel FBN1 mutation causes autosomal dominant Marfan syndrome.Semantic proximity Read ↗

De Novo Paternal FBN1 Mutation Detected in Embryos Before Implantation.Semantic proximity Read ↗

Exome Sequencing Identifies Genetic Variants Associated with Extreme Manifestations of the Cardiovascular Phenotype in Marfan Syndrome.Semantic proximity Read ↗

An alpha-helix variant p.Arg156Pro in LMNA as a cause of hereditary dilated cardiomyopathy: genetics and bioinfomatics exploration.Semantic proximity Read ↗

A Novel Fibrillin-1 Gene Mutation Leading to Marfan Syndrome in a Korean Girl.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.