Associated Papers
Ophthalmic phenotypes associated with biallelic loss-of-function PCDH12 variants.
Mattioli F et al.
American Journal of Medical Genetics. Part A, 2021
Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism.
Vineeth VS et al.
Journal of Human Genetics, 2019
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