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. 2024 Jan 4;111(1):96–118. doi: 10.1016/j.ajhg.2023.12.004

Figure 1.

Figure 1

Variant location and images of individuals with PPFIA3 variants

(A) Location of PPFIA3 variants in the genomic locus corresponding to the exon-intron structure. Number of individuals with the rare PPFIA3 variant shown in the y axis.

(B) Location of PPFIA3 variants in the corresponding protein domains. Number of individuals with the variant shown in the y axis. The fruit fly ortholog Liprin-α shows 48% identity and 62% similarity with the human PPFIA3. Sterile alpha motif, SAM.

(C) Images of individuals with heterozygous or compound heterozygous PPFIA3 variants. The three individuals shown have dysmorphic features such as wide mouth, widely spaced teeth, prominent forehead, and hypotonic facies.