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. 2022 Aug 10;43(12):1844–1851. doi: 10.1002/humu.24444

Figure 1.

Figure 1

De novo pLoF variants in TAF4 and associated dysmorphologies. (a) Schematic representation of TAF4. The TAF4 gene comprises 15 exons (separated by dashed lines). The protein contains two domains, TAFH and TAF4‐domain, depicted by gray boxes below the gene. All variants are annotated at the respective location with the predicted amino acid changes. All annotations are based on transcript NM_003185.3. b–g) Photographs of probands 1 (b), 2 (c), 3 (d), 4 (e), 6 (f), and 7 (g). TAF4, TATA‐binding protein‐associated factor 4.