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Duane radial ray syndrome

Okihiro syndrome, Duane anomaly and thenar hypoplasia

 

Duane syndrome is a congenital eye movement disorder characterized most typically by absence of abduction, restricted adduction, and retraction of the globe on attempted adduction. Duane syndrome can be coinherited with radial ray anomalies as an autosomal dominant trait, referred to as "Okihiro syndrome" or "Duane radial ray syndrome" (DRRS).

Etiology

-  mutations in SALL4 (20q13), a new member of the SALLs family of proposed C(2)H(2) zinc finger transcription factors.

See also

-  SALLs


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