PhenomeGene — Human Disease Gene Website SeriesPCDH12

Publications

Aran A et al. Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection. Neurology. 2016; 86:2012-2024. PMID: 27164683.

Guemez-Gamboa A et al. Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome.Ann. Neurol. 2018; 84: 638–647. PMID: 30178464.

Mattioli F et al. Ophthalmic phenotypes associated with biallelic loss-of-function PCDH12 variants.American Journal of Medical Genetics Part A. 2021; 185: 1275–1281. PMID: 33527719.

Suzuki-Muromoto S et al. A case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy.J. Hum. Genet. 2018;63: 749–753. PMID: 29556033.

Vineeth VS et al. Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism.J. Hum. Genet. 2018;64: 183–189. PMID: 30459466.