PMC8428514_01
The facial phenotype of Case 1 at 11 months. Note the significant short palpebral fissures, ptosis, epicanthic folds and high forehead with flat, broad nasal bridge.
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F1
Moreover, the physical examination revealed a narrow chest with widely spaced nipples and significant binary stenosis (Figure 1).
PMC8428514_02
The facial phenotype of Case 2 and 16 months. Not the high and broad forehead, flat nasal bridge, short palpebral fissures and ptosis, thin lips.
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F2
Amplicon deep sequencing validation of TRAF7 gene variants identified by WES in (A) Case 1, de novo p.(His570Asp), (B) Case 2, de novo p.(Leu595Val). Integrative Genomic Viewer screenshots are presented.
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F3
Whereas, missense heterozygous variant in TRAF7 gene [(hg38, chr16:g.002175915-C>G, NM_032271.3: c.1708C>G, p.(His570Asp)] was absent in both parents (Figure 3A) and considered as de novo event. Missense heterozygous variant in TRAF7 gene [(hg38, chr16:g.002176085-C>G, NM_032271.3: c.1783C>G, p.(His595Asp)] was absent in both parents (Figure 3B) and considered as de novo event.