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Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

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Table 8.

Stickler Syndrome: Gene-Specific Mechanism of Disease Causation

Gene 1Mechanism of Disease Causation
COL2A1 Loss of function
COL9A1
COL9A2
COL9A3
Loss of function
COL11A1
COL11A2
Dominant-negative effect
1.

Genes are in alphabetic order.

From: Stickler Syndrome

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