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A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome.
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A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome.
A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome. Am J Med Genet A. 2011 Jul; 155A(7):1668-72.
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PubMed
subject areas
Adult
Arthritis
Base Sequence
Child
Child, Preschool
Collagen Type IX
Connective Tissue Diseases
Female
Genes, Recessive
Genotype
Hearing Loss, Sensorineural
Humans
Infant
Male
Mutation
Pedigree
Phenotype
Retinal Detachment
authors with profiles
Michael P Blair