An etiologic regulatory mutation in IRF6 with loss- and gain-of-function effects
Abstract
DNA variation in Interferon Regulatory Factor 6 (IRF6) causes Van der Woude syndrome (VWS), the most common syndromic form of cleft lip and palate (CLP). However, an etiologic variant in IRF6 has been found in only 70% of VWS families. To test whether DNA variants in regulatory elements cause VWS, we sequenced three conserved elements near IRF6 in 70 VWS families that lack an etiologic mutation within IRF6 exons. A rare mutation (350dupA) was...
Paper Details
Title
An etiologic regulatory mutation in IRF6 with loss- and gain-of-function effects
Published Date
Jan 16, 2014
Journal
Volume
23
Issue
10
Pages
2711 - 2720
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Notes
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