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

The genetic basis of the osteochondrodysplasias.

Journal of pediatric orthopedics - 1 Jan 2000

Baitner A C, Maurer S G, Gruen M B, Di Cesare P E

Abstract excerpt

The osteochondrodysplasias are a heterogeneous group of disorders characterized by abnormal growth and remodeling of cartilage and bone, affecting from 2 to 4.7 per 10,000 individuals. Most osteochondrodysplasias are heritable and many have elaborate patterns of genetic transmission. Affected individuals generally require management by multidisciplinary teams of specialists. In this review, we divide the...

Read the complete abstract on PubMed

Topics

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

Share to Achondroplasia
Share to Arylsulfatases
Share to Cathepsin K

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Cathepsins

Share to Osteochondrodysplasias

Share to Osteogenesis Imperfecta

Share to Receptors, Fibroblast Growth Factor

Share to Thanatophoric Dysplasia

Source

Identifiers

PMID: 11008738
DOI: 10.1097/00004694-200009000-00010

Genes

SOX9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The genetic basis of the osteochondrodysplasias.PMID 11008738Read ↗

Genetic causes and mechanisms of Osteogenesis Imperfecta.Semantic proximity Read ↗

Update on the Genetics of Osteogenesis Imperfecta.Semantic proximity Read ↗

The skeletal dysplasias: clinical-molecular correlations.Semantic proximity Read ↗

Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations.Semantic proximity Read ↗

Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.Semantic proximity Read ↗

Molecular drivers of osteogenesis imperfecta: a cellular and extracellular collagen disease.Semantic proximity Read ↗

Multiple epiphyseal dysplasia.Semantic proximity Read ↗

Multiple epiphyseal dysplasia and related disorders: Molecular genetics, disease mechanisms, and therapeutic avenues.Semantic proximity Read ↗

Skeletal Dysplasias Caused by Sulfation Defects.Semantic proximity Read ↗

Molecular‐pathogenetic classification of genetic disorders of the skeletonSemantic proximity Read ↗

Skeletal diseases caused by mutations that affect collagen structure and function.Semantic proximity Read ↗

Guidelines for genetic skeletal dysplasias for pediatriciansSemantic proximity Read ↗

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