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

Two novel COL2A1 mutations associated with a Legg-Calvé-Perthes disease-like presentation.

Clinical orthopaedics and related research - 1 Jun 2011

Kannu Peter, Irving Melita, Aftimos Salim, Savarirayan Ravi

Abstract excerpt

BACKGROUND: Abnormal development and growth of the capital femoral epiphysis and acetabulum are associated with a wide variety of underlying etiologies, one of which is Legg-Calvé-Perthes disease. CASE DESCRIPTION: We report the cases of two children who presented with abnormal development of both hips and in whom novel mutations in the COL2A1 gene were found. These cases illustrate the importance of identifying...

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to Collagen Type II
Share to DNA

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Follow-Up Studies

Share to Infant, Newborn

Share to Polymerase Chain Reaction

Share to Prognosis

Share to Radiography

Source

Open in PubMed Open full text

Identifiers

PMID: 21442341
DOI: 10.1007/s11999-011-1850-x
PMCID: PMC3094608

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Two novel COL2A1 mutations associated with a Legg-Calvé-Perthes disease-like presentation.PMID 21442341Read ↗

Pathogenic Gene Variants Identified in Patients Presenting With Perthes or Perthes-like Hip Disorder.Semantic proximity Read ↗

A recurrent mutation in type II collagen gene causes Legg-Calvé-Perthes disease in a Japanese family.Semantic proximity Read ↗

A novel p. Gly630Ser mutation of COL2A1 in a Chinese family with presentations of Legg-Calvé-Perthes disease or avascular necrosis of the femoral head.Semantic proximity Read ↗

Legg-Calve-Perthes disease in two generations of male family members: a case report.Semantic proximity Read ↗

Diagnostic conundrums in antenatal presentation of a skeletal dysplasia with description of a heterozygous C-propeptide mutation in COL1A1 associated with a severe presentation of osteogenesis imperfecta.Semantic proximity Read ↗

Mutation of COL2A1 in a Chinese Family with Presentations of Legg-Calvé-Perthes DiseaseSemantic proximity Read ↗

A novel de novo mutation in COL2A1 gene associated with fetal skeletal dysplasia.Semantic proximity Read ↗

Age at onset-dependent presentations of premature hip osteoarthritis, avascular necrosis of the femoral head, or Legg-Calvé-Perthes disease in a single family, consequent upon a p.Gly1170Ser mutation of COL2A1.Semantic proximity Read ↗

Copy number variants in association with type 1 collagenopathy: Atypical osteogenesis imperfecta.Semantic proximity Read ↗

Biallelic variants p.Arg1133Cys and p.Arg1379Cys in COL2A1: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies.Semantic proximity Read ↗

Precocious osteoarthritis in a family with recurrent COL2A1 mutation.Semantic proximity Read ↗

Favourable outcome in a pregnancy with concomitant maternal and fetal osteogenesis imperfecta associated with a novel COL1A2 mutation.Semantic proximity Read ↗

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