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Article

PCDH12 variants are associated with basal ganglia anomalies and exudative vitreoretinopathy.

European journal of medical genetics - 1 Feb 2022

Accogli Andrea, El Kosseifi Charbel, Saint-Martin Christine, Addour-Boudrahem Nassima, Rivière Jean-Baptiste, Toffoli Daniela, Lopez Irma, Qian Cynthia, Koenekoop Robert K, Srour Myriam

Abstract excerpt

PCDH12 is a member of the non-clustered protocadherins that mediate cell-cell adhesion, playing crucial roles in many biological processes. Among these, PCDH12 promotes cell-cell interactions at inter-endothelial junctions, exerting essential functions in vascular homeostasis and angiogenesis. However, its exact role in eye vascular and brain development is not completely understood. To date, biallelic loss of...

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PMID: 34929393
DOI: 10.1016/j.ejmg.2021.104405

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