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 de novo intragenic duplication in FBN1 associated with early-onset Marfan syndrome in a 16-month-old: A case report and review of the literature.

American journal of medical genetics. Part A - 1 Feb 2024

Piscopo Anthony, Warner Taylor, Nagy Jaime, Nagrale Vidya, Stence Aaron, Guseva Natalya, Bernat John A, Calhoun Amy

Abstract excerpt

Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder due to pathogenic variants in Fibrillin-1 (FBN1) affecting nearly one in every 10,000 individuals. We report a 16-month-old female with early-onset MFS heterozygous for an 11.2 kb de novo duplication within the FBN1 gene. Tandem location of the duplication was further confirmed by optical genome mapping in addition to genetic sequencing and...

Read the complete abstract on PubMed

Topics

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

Share to Adipokines
Share to Fibrillin-1

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fibrillins

Share to Genetic Testing

Share to Infant

Share to Marfan Syndrome

Share to Mutation

Share to Point Mutation

Source

Identifiers

PMID: 37840436
DOI: 10.1002/ajmg.a.63440

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel de novo intragenic duplication in FBN1 associated with early-onset Marfan syndrome in a 16-month-old: A case report and review of the literature.PMID 37840436Read ↗

Identification of two novel large deletions in FBN1 gene by next-generation sequencing and multiplex ligation-dependent probe amplificationSemantic proximity Read ↗

Marfan syndrome: Report of a complex phenotype due to a 15q21.1 contiguos gene deletion encompassing FBN1, and literature review.Semantic proximity Read ↗

A systematic study and literature review of parental somatic mosaicism of FBN1 pathogenic variants in Marfan syndrome.Semantic proximity Read ↗

Overcoming challenges associated with identifying FBN1 deep intronic variants through whole-genome sequencing.Semantic proximity Read ↗

Identification of two novel large deletions in FBN1 gene by next-generation sequencing and multiplex ligation-dependent probe amplification.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 ↗

Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome.Semantic proximity Read ↗

Multi-exon out of frame deletion of the FBN1 gene leading to a severe juvenile onset cardiovascular phenotype in Marfan syndrome.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 ↗

Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.Semantic proximity Read ↗

AnFBN1Deep Intronic Mutation in a Familial Case of Marfan Syndrome: An Explanation for Genetically Unsolved Cases?Semantic proximity Read ↗

Re-evaluation of a Fibrillin-1 Gene Variant of Uncertain Significance Using the ClinGen Guidelines.Semantic proximity Read ↗

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