A novel de novo KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Möbius syndrome

PURPOSE: To describe the phenotypic characteristics and clinical course of a sporadic case of congenital fibrosis of the extraocular muscles (CFEOM) and Möbius syndrome with a de novo mutation in the KIF21A gene encoding a kinesin motor protein. METHODS: An individual with the rare combination of CF...

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Detalles Bibliográficos
Autores principales: Ali, Zahra, Xing, Chao, Anwar, Didar, Itani, Kamel, Weakley, David, Gong, Xin, Pascual, Juan M., Mootha, V. Vinod
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3976685/
https://www.ncbi.nlm.nih.gov/pubmed/24715754

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