Article
Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile Nystagmus.
Investigative ophthalmology & visual science - 12 Feb 2015
AlMoallem Basamat, Bauwens Miriam, Walraedt Sophie, Delbeke Patricia, De Zaeytijd Julie, Kestelyn Philippe, Meire Françoise, Janssens Sandra, van Cauwenbergh Caroline, Verdin Hannah, Hooghe Sally, Kumar Thakur Prasoon, Coppieters Frauke, De Leeneer Kim, Devriendt Koenraad, Leroy Bart P, De Baere Elfride
Abstract excerpt
PURPOSE: Idiopathic infantile nystagmus (IIN; OMIM 31700) with X-linked inheritance is one of the most common forms of infantile nystagmus. Up to date, three X-linked loci have been identified, Xp11.4-p11.3 (calcium/calmodulin-dependent serine protein kinase [CASK]), Xp22 (GPR143), and Xq26-q27 (...
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