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

doi:10.1016/s0901-5027(98)80036-2

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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 hypothe...

Topics

Achondroplasia
Bone Development
Craniofacial Abnormalities
Gene Expression Regulation, Developmental
Humans
Mutation
Osteochondrodysplasias
Protein-Tyrosine Kinases
Receptor, Fibroblast Growth Factor, Type 3
Receptors, Fibroblast Growth Factor
Thanatophoric Dysplasia

Source

Open in PubMed

Identifiers

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

Genes

FGFR3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9869286-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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