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Article

A Novel Frameshift Mutation in <i>FRMD7</i> Causing X-Linked Idiopathic Congenital Nystagmus

1 Dec 2008

Abstract excerpt

Idiopathic congenital nystagmus (ICN) is a common oculomotor disorder characterized by bilateral involuntary, periodic, and predominantly ocular oscillations. X-linked ICN (XLICN) with incomplete penetrance in females is the most common inheritance form, and FERM domain containing (FRMD7) mutation is the major reason for XLICN families. To date, 39 FRMD7 mutations have been identified, and 50% of the XLICN...

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Identifiers

PMID: 19072571
DOI: 10.1089/gte.2008.0070

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