SMCHD1 and arhinia, choanal atresia, and microphthalmia: Recently, the genetic connection between FSHD2 and arhinia/Bosma arhinia microphthalmia syndrome (BAMS), caused by mutations in the SMCHD1 gene [38,39], has led to a wider interest in the epigenetic analyses of the 4q35 locus using these two protocols.