Associated Papers
Stickler syndrome - lessons from a national cohort.
Snead MP et al.
Eye (london, England), 2022
Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37.
Booth KT et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss.
Richards AJ et al.
Journal of Medical Genetics, 2013
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