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References

These sources were used to develop the Genetics Home Reference condition summary on achondroplasia.

Gene Review
Horton WA, Lunstrum GP. Fibroblast growth factor receptor 3 mutations in achondroplasia and related forms of dwarfism. Rev Endocr Metab Disord. 2002 Dec;3(4):381-5. Review. No abstract available. PubMed citation
Horton WA. Recent milestones in achondroplasia research. Am J Med Genet A. 2006 Jan 15;140(2):166-9. No abstract available. PubMed citation
Scriver, Charles R; The metabolic & molecular bases of inherited disease; 8th ed.; New York : McGraw-Hill, c2001. p5379-5395.
Vajo Z, Francomano CA, Wilkin DJ. 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 nigricans. Endocr Rev. 2000 Feb;21(1):23-39. Review. PubMed citation

Reviewed: June 2006

Published: November 20, 2009