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Article

Some chondrodysplasias with short limbs: molecular perspectives.

American journal of medical genetics - 15 Oct 2002

Cohen M Michael

Abstract excerpt

A table of molecularly defined chondrodysplasias with short limbs is provided. Several are discussed in detail, including osteogenesis imperfecta and type I collagen mutations, Jansen metaphyseal chondrodysplasia and parathyroid hormone/parathyroid hormone-related protein receptor mutation, and chondrodysplasias caused by fibroblast growth factor receptor 3 mutations. The latter group includes achondroplasia,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Limb Deformities, Congenital

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Share to Receptor, Fibroblast Growth Factor, Type 3

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Share to Thanatophoric Dysplasia

Source

Identifiers

PMID: 12357475
DOI: 10.1002/ajmg.10780

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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