Ontology highlight
ABSTRACT:
SUBMITTER: Leslie EJ
PROVIDER: S-EPMC3898350 | biostudies-literature | 2013 Oct
REPOSITORIES: biostudies-literature
Leslie Elizabeth J EJ Mancuso Jennifer L JL Schutte Brian C BC Cooper Margaret E ME Durda Kate M KM L'Heureux Jamie J Zucchero Theresa M TM Marazita Mary L ML Murray Jeffrey C JC
American journal of medical genetics. Part A 20130815 10
Van der Woude syndrome is the most common form of syndromic orofacial clefting, accounting for 1-2% of all patients with cleft lip and/or cleft palate. Van der Woude and popliteal pterygium syndromes are caused by mutations in IRF6, but phenotypic variability within and among families with either syndrome suggests that other genetic factors contribute to the phenotypes. The aim of this study was to identify common variants acting as genetic modifiers of IRF6 as well as genotype-phenotype correla ...[more]