Su Yin Htun and colleagues conduct a sequencing analysis of the IRF6 gene onfamilies with Demarquay-van der Woude (DVWS) and Popliteal Pterygium (PPS) syndromes. They showed that the case (infant) and two family members are identified as interlinked DVWS-PPS.
Htun, Su Yin et al. JBR Journal of Interdisciplinary Medicine and Dental Science.
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Cincinnati Children's Hospital Medical Center