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. 2021 Sep 8;14:733012. doi: 10.3389/fnmol.2021.733012

TABLE 4.

NDD-causing genes encoding proteasome subunits and associated syndromes.

Gene OMIM Syndrome References Described regulator of References
PSMD12 617516 STANKIEWICZ-ISIDOR SYNDROME Kury et al. (2017) Inflammation Ebstein et al. (2019); Cetin et al. (2021); Goetzke et al. (2021)
PSMC3 NEUROSENSORY SYNDROME COMBINING DEAFNESS AND CATARACT Kroll-Hermi et al. (2020)
PSMB1 MICROCEPHALY, INTELLECTUAL DISABILITY, DEVELOPMENTAL DELAY AND SHORT STATURE Ansar et al. (2020)

The potential implication of the gene products in the regulation of innate and/or adaptive is indicated. When available, the OMIM (Online Mendelian Inheritance in Man®) disorder number is also reported.