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A novel mutation in the IRF6 gene associated with facial asymmetry in a family affected with Van der Woude Syndrome
Author(s) -
MiñonesSuárez Lorena,
MasVidal Alberto,
FernandezToral Joaquin,
LlanoRivas Isabel,
GonzálezGarcía Manuel
Publication year - 2011
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/j.1525-1470.2011.01575.x
Subject(s) - missense mutation , medicine , genetics , phenotype , mutation , facial symmetry , gene , asymmetry , gene mutation , biology , surgery , physics , quantum mechanics
Abstract: This report describes a novel missense mutation in the interferon regulation factor 6 ( IRF6 ) gene associated to facial asymmetry. This new feature widens the phenotype spectrum of Van der Woude syndrome (VWS).