
		About Site Map Contact Us
	A service of the U.S. National Library of Medicine®
Home Conditions Genes Chromosomes Handbook Glossary Resources

Genetic Conditions > Camurati-Engelmann disease >

References

These sources were used to develop the Genetics Home Reference condition summary on Camurati-Engelmann disease.

Campos-Xavier B, Saraiva JM, Savarirayan R, Verloes A, Feingold J, Faivre L, Munnich A, Le Merrer M, Cormier-Daire V. Phenotypic variability at the TGF-beta1 locus in Camurati-Engelmann disease. Hum Genet. 2001 Dec;109(6):653-8. Epub 2001 Nov 9. PubMed citation
Janssens K, ten Dijke P, Ralston SH, Bergmann C, Van Hul W. Transforming growth factor-beta 1 mutations in Camurati-Engelmann disease lead to increased signaling by altering either activation or secretion of the mutant protein. J Biol Chem. 2003 Feb 28;278(9):7718-24. Epub 2002 Dec 18. PubMed citation
Janssens K, Vanhoenacker F, Bonduelle M, Verbruggen L, Van Maldergem L, Ralston S, Guañabens N, Migone N, Wientroub S, Divizia MT, Bergmann C, Bennett C, Simsek S, Melançon S, Cundy T, Van Hul W. Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment. J Med Genet. 2006 Jan;43(1):1-11. Epub 2005 May 13. Review. PubMed citation
Stasolla A, Magliulo G, Bellussi A, Parrotto D, Bibbolino C, Marini M. Imaging of the temporal bone in Camurati-Engelmann dysplasia with an 11-year follow-up. Otol Neurotol. 2005 Jul;26(4):773-7. PubMed citation
Wallace SE, Lachman RS, Mekikian PB, Bui KK, Wilcox WR. Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): report of a four-generation pedigree, identification of a mutation in TGFB1, and review. Am J Med Genet A. 2004 Sep 1;129A(3):235-47. PubMed citation

Reviewed: April 2008

Published: May 20, 2013