Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature.
Ansar M., Ebstein F., Özkoç H., Paracha S.A., Iwaszkiewicz J., Gesemann M., Zoete V., Ranza E., Santoni F.A., Sarwar M.T. et al., 2020/05/08. Human molecular genetics, 29 (7) pp. 1132-1143. Peer-reviewed.
