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. 2021 Feb 4;22(4):1564. doi: 10.3390/ijms22041564

Figure 4.

Figure 4

The genetic and clinical heterogeneity associated with Marinesco-Sjögren syndrome (MSS). (A) The spectrum of clinical features associated with MSS and their relative frequencies. Adapted from Krieger et al. [60]. (B) The SIL1 protein cartoon demonstrates 45 MSS-associated mutations (1 intronic mutation is not displayed). Mutations are indicated as frameshift (red), nonsense (orange), missense (blue), and in/del (grey). Lilac, ER-targeting signal sequence; light green, armadillo-like repeats. Created with BioRender.com.