case_images: PMC8428514_01
case_images: 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.
case_images: fmed-08-708717-g0001.jpg
case_images: PMC8428514_01_fmed-08-708717-g0001.jpg
case_images: F1
case_images: Moreover, the physical examination revealed a narrow chest with widely spaced nipples and significant binary stenosis (Figure 1).
case_images: PMC8428514_02
case_images: 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.
case_images: fmed-08-708717-g0002.jpg
case_images: PMC8428514_02_fmed-08-708717-g0002.jpg
case_images: F2
case_images: 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.
case_images: fmed-08-708717-g0003.jpg
case_images: PMC8428514_02_fmed-08-708717-g0003.jpg
case_images: F3
case_images: 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.