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Article

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

Molecular vision - 1 Jan 2014

Ali Zahra, Xing Chao, Anwar Didar, Itani Kamel, Weakley David, Gong Xin, Pascual Juan M, Mootha V Vinod

Abstract excerpt

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 CFEOM and Möbius syndrome underwent comprehensive ophthalmologic and neurological evaluations. Magnetic resonance...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24715754
PMCID: PMC3976685

Genes

TUBB3

Variants

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