Format

Send to

Choose Destination
See comment in PubMed Commons below
Int J Oral Maxillofac Surg. 1998 Dec;27(6):451-5.

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

Author information

1
Department of Oral & Maxillofacial Sciences, Faculty of Dentistry, Dalhousie University, Halifax, Nova Scotia, Canada.

Abstract

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.

PMID:
9869286
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Loading ...
    Support Center