Article

Novel <i>PCDH12</i> pathogenic missense variants cause neurodevelopmental disorders with ocular malformation

2026-03-06

Abstract excerpt

Protocadherin-12 (PCDH12), a cell-adhesion protein belonging to the non-clustered protocadherin family, plays a crucial role in the establishment and regulation of neuronal connections and communication. Bi-allelic loss-of-function (LoF) variants in the PCDH12 gene have been associated with several neurodevelopmental disorders (NDDs) such as diencephalic-mesencephalic junction dysplasia syndrome, cerebral palsy,...

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Literature Corpus work: 5844b866-a041-563d-83cf-abccb28a4686
DOI: 10.64898/2026.03.05.26343794

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