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 skeletal dysplasias: clinical-molecular correlations.

Annals of the New York Academy of Sciences - 1 Nov 2007

Rimoin David L, Cohn Daniel, Krakow Deborah, Wilcox William, Lachman Ralph S, Alanay Yasemin

Abstract excerpt

The skeletal dysplasias or osteochondrodysplasias are a clinically and genetically heterogeneous group of disorders of bone and/or cartilage. They are characterized by abnormalities in pattering, linear growth, differentiation, and maintenance of the human skeleton. While they have been considered to be generalized disorders of endochondral and/or membranous ossification, the extent of their clinical and...

Read the complete abstract on PubMed

Topics

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

Share to Bone and Bones
Share to Cartilage
Share to Dwarfism

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

Share to Dysostoses

Share to Models, Biological

Share to Musculoskeletal Abnormalities

Share to Osteochondrodysplasias

Share to Registries

Source

Identifiers

PMID: 18056050
DOI: 10.1196/annals.1402.072

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 skeletal dysplasias: clinical-molecular correlations.PMID 18056050Read ↗

Molecular defects causing skeletal dysplasias.Semantic proximity Read ↗

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

Nosology and classification of genetic skeletal disorders: 2010 revision.Semantic proximity Read ↗

Advances in Skeletal Dysplasia Genetics.Semantic proximity Read ↗

Clinical--molecular correlations in the skeletal dysplasias.Semantic proximity Read ↗

Guidelines for genetic skeletal dysplasias for pediatriciansSemantic proximity Read ↗

Nosology and classification of genetic skeletal disorders: 2006 revision.Semantic proximity Read ↗

Nosology and classification of genetic skeletal disorders: 2015 revisionSemantic proximity Read ↗

A new concept of skeletal dysplasias.Semantic proximity Read ↗

[Genetic basis for skeletal disease. Radiological approach for genetic skeletal disorders].Semantic proximity Read ↗

The genetic basis of the osteochondrodysplasias.Semantic proximity Read ↗

[Bone and joint diseases in children. Skeletal dysplasia in children--unrecognized cases in daily practice].Semantic proximity Read ↗

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