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|Title:||Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.|
|Citation:||NAT GENET, 2006, 38 (11), pp. 1242-1244|
|Abstract:||Idiopathic congenital nystagmus is characterized by involuntary, periodic, predominantly horizontal oscillations of both eyes. We identified 22 mutations in FRMD7 in 26 families with X-linked idiopathic congenital nystagmus. Screening of 42 singleton cases of idiopathic congenital nystagmus (28 male, 14 females) yielded three mutations (7%). We found restricted expression of FRMD7 in human embryonic brain and developing neural retina, suggesting a specific role in the control of eye movement and gaze stability.|
|Appears in Collections:||Published Articles, Dept. of Genetics|
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