Identification of novel genetic and epigenetic mechanisms involved in the etiopathogenesis of orofacial clefts by means of exome sequencing, searching for DNA elements and p63 transcription factor binding sites KU Leuven
Cleft lip/palate (CL/P) is one of the most common birth defects in man (1 in 700 live births) and arises through a combination of genetic susceptibility factors andinfluences of / exposures to environmental risk factors in utero. In the identification of genetic causes of CL/P, only a limited number of cases is expected to be explained by mutations in the coding regions. These are presumed to be present in families with multiple OFC affected ...