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

Correlation between FBN1 mutations and ocular features with ectopia lentis in the setting of Marfan syndrome and related fibrillinopathies.

Human mutation - 1 Dec 2021

Chen Ze-Xu, Chen Tian-Hui, Zhang Min, Chen Jia-Hui, Lan Li-Na, Deng Michael, Zheng Jia-Lei, Jiang Yong-Xiang

Abstract excerpt

Mutations of fibrillin-1 (FBN1) have been associated with Marfan syndrome and pleiotropic connective tissue disorders, collectively termed as "type I fibrillinopathy". However, few genotype-phenotype correlations are known in the ocular system. Patients with congenital ectopia lentis (EL) received panel-based next-generation sequencing, complemented with multiplex ligation-dependent probe amplification. In a...

Read the complete abstract on PubMed

Topics

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

Share to Ectopia Lentis
Share to Fibrillin-1

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fibrillins

Share to Genotype

Share to Marfan Syndrome

Share to Microfilament Proteins

Share to Mutation

Share to Phenotype

Source

Identifiers

PMID: 34550612
DOI: 10.1002/humu.24283

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

Correlation between FBN1 mutations and ocular features with ectopia lentis in the setting of Marfan syndrome and related fibrillinopathies.PMID 34550612Read ↗

Fibrillin-1 gene mutations in a Chinese cohort with congenital ectopia lentis: spectrum and genotype-phenotype analysis.Semantic proximity Read ↗

Novel p.G1344E mutation in FBN1 is associated with ectopia lentis.Semantic proximity Read ↗

Genotype variant screening and phenotypic analysis of FBN1 in Chinese patients with isolated ectopia lentis.Semantic proximity Read ↗

Clinical and Surgical Implications of Genotype-Phenotype Correlations in Congenital Ectopia Lentis: A Real-World Cohort Study.Semantic proximity Read ↗

Genotype-phenotype Correlations of Ocular Posterior Segment Abnormalities in Marfan SyndromeSemantic proximity Read ↗

Marfan syndrome: ocular findings and novel mutations-in pursuit of genotype-phenotype associations.Semantic proximity Read ↗

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

Novel FBN1 mutations associated with predominant ectopia lentis and marfanoid habitus in Chinese patients.Semantic proximity Read ↗

Mutation spectrum and genotype-phenotype correlations in Chinese congenital ectopia lentis patients.Semantic proximity Read ↗

Detection of 53 FBN1 mutations (41 novel and 12 recurrent) and genotype-phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy.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 ↗

Combination of Panel-based Next-Generation Sequencing and Clinical Findings in Congenital Ectopia Lentis Diagnosed in Chinese Patients.Semantic proximity Read ↗

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