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

Producción científica: Contribución a una revistaArtículorevisión exhaustiva

49 Citas (Scopus)

Resumen

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.

Idioma originalEnglish
Páginas (desde-hasta)451-455
Número de páginas5
PublicaciónInternational Journal of Oral and Maxillofacial Surgery
Volumen27
N.º6
DOI
EstadoPublished - dic. 1998

ASJC Scopus Subject Areas

  • Surgery
  • Oral Surgery
  • Otorhinolaryngology

PubMed: MeSH publication types

  • Journal Article
  • Review

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