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achondroplasia
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References
These sources were used to develop the Genetics Home Reference
condition summary
on achondroplasia.
Gene Review:
Achondroplasia
Horton WA, Hall JG, Hecht JT. Achondroplasia. Lancet. 2007 Jul 14;370(9582):162-72. Review.
PubMed citation
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.
PubMed citation
Horton WA. Recent milestones in achondroplasia research. Am J Med Genet A. 2006 Jan 15;140(2):166-9.
PubMed citation
Laederich MB, Horton WA. Achondroplasia: pathogenesis and implications for future treatment. Curr Opin Pediatr. 2010 Aug;22(4):516-23. doi: 10.1097/MOP.0b013e32833b7a69. Review.
PubMed citation
Trotter TL, Hall JG; American Academy of Pediatrics Committee on Genetics. Health supervision for children with achondroplasia. Pediatrics. 2005 Sep;116(3):771-83. Erratum in: Pediatrics. 2005 Dec;116(6):1615.
PubMed citation
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
Wright MJ, Irving MD. Clinical management of achondroplasia. Arch Dis Child. 2012 Feb;97(2):129-34. doi: 10.1136/adc.2010.189092. Epub 2011 Apr 3. Review.
PubMed citation
Reviewed: May 2012
Published: May 20, 2013
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