Associated Papers
Genetic variations in pseudoachondroplasia: a review of case reports.
Petryka L et al.
Laboratory Medicine, 2025
Ophthalmic and molecular genetic findings in Kniest dysplasia.
Sergouniotis PI et al.
Eye (london, England), 2015
Six additional cases of SEDC due to the same and recurrent R989C mutation in the COL2A1 gene--the clinical and radiological follow-up.
Silveira KC et al.
American Journal of Medical Genetics. Part A, 2015
The phenotypic spectrum of COL2A1 mutations.
Nishimura G et al.
Human Mutation, 2005
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