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Article

Achondroplasia, hypochondroplasia and thanatophoric dysplasia: clinically related skeletal dysplasias that are also related at the molecular level.

International journal of oral and maxillofacial surgery - 1 Dec 1998

Cohen M M

Abstract excerpt

This is the second of three articles on modern genetic concepts of a number of syndromes and disorders. Three short limb skeletal dysplasias with additional abnormalities of the skull are discussed. All are caused by mutations on fibroblast growth factor receptor 3 (FGFR3). A pathogenetic hypothesis is proposed to explain differences in the severity of short stature, midface deficiency, and craniosynostosis.

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

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Share to Osteochondrodysplasias

Share to Protein-Tyrosine Kinases

Share to Receptors, Fibroblast Growth Factor

Source

Identifiers

PMID: 9869286
DOI: 10.1016/s0901-5027(98)80036-2

Genes

FGFR3

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

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Achondroplasia, hypochondroplasia and thanatophoric dysplasia: clinically related skeletal dysplasias that are also related at the molecular level.PMID 9869286Read ↗

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[From gene to disease; achondroplasia and other skeletal dysplasias due to an activating mutation in the fibroblast growth factor].Semantic proximity Read ↗

FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDAN due to Lys650Met.Semantic proximity Read ↗

Some chondrodysplasias with short limbs: molecular perspectives.Semantic proximity Read ↗

The Molecular and Genetic Basis of Fibroblast Growth Factor Receptor 3 Disorders: The Achondroplasia Family of Skeletal Dysplasias, Muenke Craniosynostosis, and Crouzon Syndrome with Acanthosis NigricansSemantic proximity Read ↗

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Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.Semantic proximity Read ↗

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