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

Genetic Conditions > Kniest dysplasia >

References

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

Canepa, G((Giuseppe)); Maroteaux, Pierre; Pietrogrande, Vincenzo; Dysmorphic syndromes and constitutional diseases of the skeleton; Padova : Piccin, c2001 p917-924.
Royce, Peter M; Steinmann, Beat U; Connective tissue and its heritable disorders : molecular, genetic, and medical aspects; 2nd ed.; New York : Wiley-Liss, c2002.
Subramanian S, Gamanagatti S, Sinha A, Sampangi R. Kniest syndrome. Indian Pediatr. 2007 Dec;44(12):931-3. PubMed citation
Wilkin DJ, Artz AS, South S, Lachman RS, Rimoin DL, Wilcox WR, McKusick VA, Stratakis CA, Francomano CA, Cohn DH. Small deletions in the type II collagen triple helix produce kniest dysplasia. Am J Med Genet. 1999 Jul 16;85(2):105-12. PubMed citation
Yokoyama T, Nakatani S, Murakami A. A case of Kniest dysplasia with retinal detachment and the mutation analysis. Am J Ophthalmol. 2003 Dec;136(6):1186-8. PubMed citation

Reviewed: July 2008

Published: May 20, 2013