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

[Analysis of a child with Marfan syndrome due to a novel variant of FBN1 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jan 2023

Zhao Liling, Liu Shengping, Hu Wenmu, Jin Ping

Abstract excerpt

OBJECTIVE: To carry out genetic testing for a child with Marfan syndrome (MFS) and explore its genotype-phenotype correlation. METHODS: Peripheral blood samples of the child and his parents were collected for the extraction of genomic DNA and subjected to whole exome sequencing (WES). Candidate variants were verified by Sanger sequencing. Functional impact of the variant was predicted by using bioinformatic...

Read the complete abstract on PubMed

Topics

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

Share to Fibrillin-1
Share to Genetic Association Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genotype

Share to Marfan Syndrome

Share to Mutation

Source

Identifiers

PMID: 36585003
DOI: 10.3760/cma.j.cn511374-20210630-00554

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

[Analysis of a child with Marfan syndrome due to a novel variant of FBN1 gene].PMID 36585003Read ↗

[A de novo mutation leading to Marfan syndrome in a case].Semantic proximity Read ↗

[Identification of a novel FBN1 variant in a pedigree affected with Marfan syndrome].Semantic proximity Read ↗

Genotype and clinical phenotype of children with Marfan syndrome in Southeastern Anatolia.Semantic proximity Read ↗

An integrated clinical and molecular study of a cohort of Turkish patients with Marfan syndrome harboring known and novel FBN1 variants.Semantic proximity Read ↗

[Clinical manifestations and genetic analysis of 4 patients with variants of FBN1 gene].Semantic proximity Read ↗

Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience.Semantic proximity Read ↗

Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review.Semantic proximity Read ↗

Neonatal Marfan syndrome: a case report of a novel fibrillin 1 mutation, with genotype-phenotype correlation and brief review of the literature.Semantic proximity Read ↗

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

Identification of a novel FBN1 gene mutation in a Chinese family with Marfan syndrome.Semantic proximity Read ↗

Severe neonatal Marfan syndrome with a novel mutation in the intron of the FBN1 gene: A case report.Semantic proximity Read ↗

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