Article
Clinical and Genetic Findings in Mexican Patients with Duane Anomaly and Radial Ray Malformations/Okihiro Syndrome.
Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion - 1 Jan 2000
Chacón-Camacho Óscar F, Cabral-Macías Jesús, Ayala-Ramírez Raúl, Arteaga-Vázquez Jazmín, Svyryd Yevgeniya, Helmes Karla, Pérez-Hernández Nohemí, Mutchinick Osvaldo M, Zenteno Juan Carlos
Abstract excerpt
BACKGROUND: Okihiro syndrome is an autosomal-dominant condition characterized by radial ray malformations associated with Duane anomaly and other clinical characteristics. SALL4 mutations have been identified in 80-90% of patients with Duane- Radial ray defects/Okihiro syndrome. We report the clinical findings and results of SALL4 sequencing from a group of Mexican patients with this disorder. OBJECTIVE: Clinical...
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