Duane Radial Ray Syndrome (Okihiro Syndrome) Maps to 20q13 and Results from Mutations in SALL4, a New Member of the SAL Family

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 syn...

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Auteurs principaux: 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.
Format: Artigo
Langue:Inglês
Publié: The American Society of Human Genetics 2002
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Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC385096/
https://ncbi.nlm.nih.gov/pubmed/12395297
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