Article
CHN1 and duane retraction syndrome: Expanding the phenotype to cranial nerves development disease.
European journal of medical genetics - 1 Apr 2021
Angelini Chloé, Trimouille Aurélien, Arveiler Benoit, Espil-Taris Caroline, Ichinose Nobuyasu, Lasseaux Eulalie, Tourdias Thomas, Lacombe Didier
Abstract excerpt
Duane retraction syndrome is a congenital eye movement disorder characterized by a failure of abducens nerve to develop normally, resulting in restriction or absence of abduction, adduction, or both, and narrowing of the palpebral fissure and retraction of the globe on attempted adduction. There is a genetic heterogeneity in Duane retraction syndrome (DURS). DURS maps to chromosome 8q13 in some patients, and...
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