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

Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis.

American journal of human genetics - 1 Oct 2003

Hanks Sandra, Adams Sarah, Douglas Jenny, Arbour Laura, Atherton David J, Balci Sevim, Bode Harald, Campbell Mary E, Feingold Murray, Keser Gökhan, Kleijer Wim, Mancini Grazia, McGrath John A, Muntoni Francesco, Nanda Arti, Teare M Dawn, Warman Matthew, Pope F Michael, Superti-Furga Andrea, Futreal P Andrew, Rahman Nazneen

Abstract excerpt

Juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH) are autosomal recessive conditions characterized by multiple subcutaneous skin nodules, gingival hypertrophy, joint contractures, and hyaline deposition. We previously mapped the gene for JHF to chromosome 4q21. We now re...

Read the complete abstract on PubMed

Topics

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

Share to Family
Share to Fibroma

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to In Situ Hybridization

Share to Receptors, Peptide

Share to Reverse Transcriptase Polymerase Chain Reaction

Share to Sequence Alignment

Share to Sequence Homology, Amino Acid

Share to Skin Neoplasms

Source

Open in PubMed Open full text

Identifiers

PMID: 14508707
DOI: 10.1086/378418
PMCID: PMC1180602

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-14508707-2026-09-02.2. 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

Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis.PMID 14508707Read ↗

Juvenile hyaline fibromatosis and infantile systemic hyalinosis overlap associated with a novel mutation in capillary morphogenesis protein-2 gene.Semantic proximity Read ↗

Capillary morphogenesis gene-2 mutation in infantile systemic hyalinosis: ultrastructural study and mutation analysis in a Taiwanese infant.Semantic proximity Read ↗

Systemic Hyalinosis With Heterozygous CMG2 Mutations: A Case Report and Review of Literature.Semantic proximity Read ↗

Hyaline fibromatosis syndrome: Clinical update and phenotype-genotype correlations.Semantic proximity Read ↗

The dark sides of capillary morphogenesis gene 2.Semantic proximity Read ↗

[Juvenile hyaline fibromatosis].Semantic proximity Read ↗

Hyaline fibromatosis syndrome with a novel 4.41-kb deletion in ANTXR2 gene: A case report and literature review.Semantic proximity Read ↗

Systemic hyalinosis mutations in the CMG2 ectodomain leading to loss of function through retention in the endoplasmic reticulum.Semantic proximity Read ↗

Infantile systemic hyalinosis associated with a putative splice-site mutation in the ANTXR2 gene.Semantic proximity Read ↗

Juvenile Hyaline Fibromatosis Syndrome: A Novel Variant in the ANTXR2 Gene Causing Severe Phenotype.Semantic proximity Read ↗

Diagnosis implications of the whole genome sequencing in a large Lebanese family with hyaline fibromatosis syndrome.Semantic proximity Read ↗

[Infantile systemic hyalinosis: a case report and literature review].Semantic proximity Read ↗

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