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

Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene.

American journal of human genetics - 12 Nov 2010

Tompson Stuart W, Bacino Carlos A, Safina Nicole P, Bober Michael B, Proud Virginia K, Funari Tara, Wangler Michael F, Nevarez Lisette, Ala-Kokko Leena, Wilcox William R, Eyre David R, Krakow Deborah, Cohn Daniel H

Abstract excerpt

Fibrochondrogenesis is a severe, autosomal-recessive, short-limbed skeletal dysplasia. In a single case of fibrochondrogenesis, whole-genome SNP genotyping identified unknown ancestral consanguinity by detecting three autozygous regions. Because of the predominantly skeletal nature of the phenoty...

Read the complete abstract on PubMed

Topics

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

Share to Cartilage
Share to Cell Adhesion Molecules Research

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Collagen Type XI

Share to Connective tissue disorders research

Share to Hearing Loss

Share to Mutation

Share to Osteochondrodysplasias

Share to TGF-β signaling in diseases

Source

Open in PubMed Open full text

Identifiers

PMID: 21035103
DOI: 10.1016/j.ajhg.2010.10.009
PMCID: PMC2978944

Genes

COL11A1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21035103-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene.PMID 21035103Read ↗

Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2.Semantic proximity Read ↗

A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasia.Semantic proximity Read ↗

Clinical Whole-Exome Sequencing Analysis Reveals a Novel Missense COL11A1 Mutation Resulting in an 18-Week Iranian Male Aborted Fetus with Fibrochondrogenesis 1: A Case ReportSemantic proximity Read ↗

Clinical and molecular analysis of UAE fibrochondrogenesis patients expands the phenotype and reveals two COL11A1 homozygous null mutations.Semantic proximity Read ↗

Diversity in heritable disorders of connective tissue at a single center.Semantic proximity Read ↗

Novel biallelic COL25A1 variants broaden the clinical spectrum from congenital cranial dysinnervation disorders to fetal lethal phenotypes.Semantic proximity Read ↗

Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1.Semantic proximity Read ↗

Identification of a novel COL10A1: c.1952 G>T variant in a family with Schmid metaphyseal chondrodysplasia and development of a noninvasive prenatal testing method.Semantic proximity Read ↗

Heterozygous Zinc Finger 469 Gene Changes Contribute to Ehlers-Danlos Syndrome, Hypermobile TypeSemantic proximity Read ↗

Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes.Semantic proximity Read ↗

A meta-analysis of genome-wide association studies in 614,243 individuals identifies 59 novel susceptibility loci underlying Dupuytren’s contractureSemantic proximity Read ↗

Heritable collagen disorders: from genotype to phenotype.Semantic proximity Read ↗

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