A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome

Baker S, Booth C, Fillman C, Shapiro M, Blair MP, Hyland JC, Ala-Kokko L. A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome. Am J Med Genet A. 2011 Jul;155(7):1668-72.

PubMed ID: 
21671392