Identification of<i>KIF21A</i>Mutations as a Rare Cause of Congenital Fibrosis of the Extraocular Muscles Type 3 (CFEOM3)

Yamada, Koki; Chan, Wai‐Man; Andrews, Caroline; M. Bosley, Thomas; Cumhur Şener, Emin; T. Zwaan, Johan; B. Mullaney, Paul; T. O ̈ztu ̈rk, Banu; Akarsu, Nurten; J. Sabol, Louise; L. Demer, Joseph; J. Sullivan, Timothy; Gottlob, Irène; Roggenka ̈emper, Peter; A. Mackey, David; E. de Uzcátegui, Clara; Uzcategui, Nicolas; Ben‐Zeev, Bruria; I. Traboulsi, Elias; Magli, Adriano; de Berardinis, Teresa; Gagliardi, Vincenzo; Awasthi-Patney, Sudha; Vogel, Marlene; F. Rizzo, Joseph; C. Engle, Elizabeth

doi:10.1167/iovs.03-1413

Public

Identification ofKIF21AMutations as a Rare Cause of Congenital Fibrosis of the Extraocular Muscles Type 3 (CFEOM3)

Published in Investigative Ophthalmology & Visual Science • Jun 28, 2004

Authors:

Koki Yamada

Wai‐Man Chan

Caroline Andrews

Abstract

PURPOSE: Three congenital fibrosis of the extraocular muscles phenotypes (CFEOM1-3) have been identified. Each represents a specific form of paralytic strabismus characterized by congenital restrictive ophthalmoplegia, often with accompanying ptosis. It has been demonstrated that CFEOM1 results from...

Subject

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Genetics

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