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

De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy.

American journal of medical genetics. Part A - 1 May 2014

Garg Abhimanyu, Xing Chao

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Diagnosis, Differential
Share to Fibrillin-1
Share to Fibrillins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Marfan Syndrome

Share to Microfilament Proteins

Share to Progeria

Share to Protein Interaction Domains and Motifs

Source

Open in PubMed Open full text

Identifiers

PMID: 24665001
DOI: 10.1002/ajmg.a.36449
PMCID: PMC7597435

Genes

FBN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy.PMID 24665001Read ↗

Premature aging disorders: A clinical and genetic compendium.Semantic proximity Read ↗

Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1.Semantic proximity Read ↗

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

Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene.Semantic proximity Read ↗

Altered splicing in prelamin A-associated premature aging phenotypes.Semantic proximity Read ↗

Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype.Semantic proximity Read ↗

Lipodystrophic Laminopathies: From Dunnigan Disease to Progeroid Syndromes.Semantic proximity Read ↗

Weill-Marchesani-like syndrome caused by an FBN1 mutation with low-penetrance.Semantic proximity Read ↗

Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS).Semantic proximity Read ↗

A mutation abolishing the ZMPSTE24 cleavage site in prelamin A causes a progeroid disorder.Semantic proximity Read ↗

Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in <i>FBN1</i>Semantic proximity Read ↗

Marfan syndrome variation of the POGLUT2 and POGLUT3 consensus sequence can produce aberrant fibrillin-1 O-glucosylationSemantic proximity Read ↗

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