Bowen-Conradi Syndrome (BWCNS)

Bowen-Conradi Syndrome, also known as bwcns, is related to cerebrooculofacioskeletal syndrome 1 and neural tube defects. An important gene associated with Bowen-Conradi Syndrome is EMG1 (EMG1 N1-Specific Pseudouridine Methyltransferase), and among its related pathways/superpathways are Processing of Capped Intron-Containing Pre-mRNA and rRNA processing in the nucleus and cytosol. The drugs Acetylsalicylic acid and Sodium citrate have been mentioned in the context of this disorder. Affiliated tissues include testes and brain, and related phenotypes are joint stiffness and microcephaly