Article
Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family.
American journal of human genetics - 1 Nov 2002
Al-Baradie Raidah, Yamada Koki, St Hilaire Cynthia, Chan Wai-Man, Andrews Caroline, McIntosh Nathalie, Nakano Motoi, Martonyi E Jean, Raymond William R, Okumura Sada, Okihiro Michael M, Engle Elizabeth C
Abstract excerpt
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). We ascertained three pedigrees with DRRS and mapped their disease gene...
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