Decreased ACKR3 (CXCR7) function causes oculomotor synkinesis in mice and humans
Abstract
Oculomotor synkinesis is the involuntary movement of the eyes or eyelids with a voluntary attempt at a different movement. The chemokine receptor CXCR4 and its ligand CXCL12 regulate oculomotor nerve development; mice with loss of either molecule have oculomotor synkinesis. In a consanguineous family with congenital ptosis and elevation of the ptotic eyelid with ipsilateral abduction, we identified a co-segregating homozygous missense variant...
Paper Details
Title
Decreased ACKR3 (CXCR7) function causes oculomotor synkinesis in mice and humans
Published Date
Jun 18, 2019
Journal
Volume
28
Issue
18
Pages
3113 - 3125
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