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

A novel FBN1 mutation causes autosomal dominant Marfan syndrome.

Molecular medicine reports - 1 Nov 2017

Xiao Ying, Liu Xiaoqi, Guo Xiaoxin, Liu Liping, Jiang Linxin, Wang Qi, Gong Bo

Abstract excerpt

Marfan syndrome (MFS) is an inherited and systemic disorder. It has been reported that mutations in the fibrillin‑1 gene (FBN1) account for ~90% of autosomal dominant cases of MFS. This study was conducted to screen mutations of FBN1 in a Chinese family with autosomal dominant MFS; four individuals including two patients with MFS were recruited. The family members underwent complete physical, cardiovascular and...

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 Asian People
Share to China

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heterozygote

Share to Marfan Syndrome

Share to Mutation, Missense

Share to Myopia

Share to Sequence Alignment

Source

Open in PubMed Open full text

Identifiers

PMID: 28944857
DOI: 10.3892/mmr.2017.7544
PMCID: PMC5865861

Genes

FBN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel FBN1 mutation causes autosomal dominant Marfan syndrome.PMID 28944857Read ↗

A novel FBN1 heterozygous mutation identified in a Chinese family with autosomal dominant Marfan syndrome.Semantic proximity Read ↗

A new novel mutation in FBN1 causes autosomal dominant Marfan syndrome in a Chinese family.Semantic proximity Read ↗

Identification of a novel FBN1 gene mutation in a Chinese family with 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 ↗

C596G mutation in FBN1 causes Marfan syndrome with exotropia in a Chinese family.Semantic proximity Read ↗

Next-generation sequencing identifies novel mutations in the FBN1 gene for two Chinese families with Marfan syndrome.Semantic proximity Read ↗

Targeted next-generation sequencing reveals the genetic mechanism of Chinese Marfan syndrome cohort with ocular manifestation.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 ↗

Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies.Semantic proximity Read ↗

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

FBN1 mutation screening of patients with Marfan syndrome and related disorders: detection of 46 novel FBN1 mutations.Semantic proximity Read ↗

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

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