Figure 3.

Figure 3.

Reported pathogenic variants in RNU4atac-opathy

In addition to the single nucleotide variants shown, a disease-associated tandem 85-bp duplication (nt. 16_100) has been reported [Krøigård et al 2016]. Note: Pathogenic variants are labeled with the phenotype assigned by Benoit-Pilven et al [2020]. Individuals with moderate disease are therefore not distinguished.

LWS = Lowry-Wood syndrome; MOPDI = microcephalic osteodysplastic primordial dwarfism type I/III; Roifman = Roifman syndrome

Adapted from Benoit-Pilven et al [2020]

From: RNU4atac-opathy

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