Ontology highlight
ABSTRACT:
SUBMITTER: Tan EC
PROVIDER: S-EPMC3751720 | biostudies-literature | 2013
REPOSITORIES: biostudies-literature
Tan Ene-Choo EC Lim Eileen Cp EC Lee Seng-Teik ST
Molecular cytogenetics 20130806
<h4>Background</h4>Van der Woude syndrome is the most common among syndromes which include cleft lip and/or cleft palate as one of the presentations. It is usually caused by mutations in the interferon regulatory factor 6 (IRF6) gene.<h4>Case presentation</h4>We previously reported on a patient with suspected deletion of the IRF6 gene. Using the Affymetrix Human SNP 6.0 Array, the interstitial deletion has been confirmed and found to be approximately 2.327-2.334 Mb within the 1q32.2 region. Alth ...[more]