Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1

Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1

<p>Abstract</p> <p>Background</p> <p>Congenital fibrosis of the extraocular muscles types 1 and 3 (CFEOM1/CFEOM3) are autosomal dominant strabismus disorders that appear to result from maldevelopment of ocular nuclei and nerves. We previously reported that most individu...

Full description

Bibliographic Details
Main Authors: Gutowski Nicholas J, Pott Jan WR, Traboulsi Elias I, Yazdani Ahmad, Hunter David G, Geraghty Michael T, Lyons Christopher, Armstrong Linlea, Fredrick Douglas, Dragan Laryssa, Andrews Caroline, Chan Wai-Man, Ellard Sian, Young Elizabeth, Hanisch Frank, Koc Feray, Schnall Bruce, Engle Elizabeth C
Format: Article
Language:English
Published: BMC 2007-05-01
Series:BMC Genetics
Online Access:http://www.biomedcentral.com/1471-2156/8/26

Internet

http://www.biomedcentral.com/1471-2156/8/26

Similar Items