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

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

The American Journal of dermatopathology - 1 Feb 2007

Antaya Richard J, Cajaiba Mariana M, Madri Joseph, Lopez Maria A, Ramirez Maria Celeste M, Martignetti John A, Reyes-Múgica Miguel

Abstract excerpt

Juvenile hyaline fibromatosis (JHF) is a rare condition of childhood characterized by deposition of an amorphous substance of unclear nature in the dermis and subcutaneous tissues. The clinical picture includes painful skin lesions, leading to impairment of movements and severe disabilities. The allelic disease, infantile systemic hyalinosis (ISH), clinically overlaps with JHF but shows a worse picture with...

Read the complete abstract on PubMed

Topics

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

Share to Connective Tissue Diseases
Share to DNA

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fibroma

Share to Germ-Line Mutation

Share to Membrane Proteins

Share to Receptors, Peptide

Share to Skin Diseases

Source

Identifiers

PMID: 17284973
DOI: 10.1097/01.dad.0000245636.39098.e5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Juvenile hyaline fibromatosis and infantile systemic hyalinosis overlap associated with a novel mutation in capillary morphogenesis protein-2 gene.PMID 17284973Read ↗

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

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

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

[Juvenile hyaline fibromatosis].Semantic proximity Read ↗

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

Infantile systemic hyalinosis in an Iranian family with a mutation in the CMG2/ANTXR2 gene.Semantic proximity Read ↗

Juvenile Hyaline Fibromatosis: Report of a Case with a Novel ANTXR2 Gene Mutation.Semantic proximity Read ↗

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

Spectrum of mutations in the ANTXR2 (CMG2) gene in infantile systemic hyalinosis and juvenile hyaline fibromatosis.Semantic proximity Read ↗

Infantile systemic hyalinosis with early thyroid dysfunction.Semantic proximity Read ↗

Infantile systemic hyalinosis: a case report and mutation analysis in a Chinese infant.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 ↗

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