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. 2020 Dec 15;10(4):281. doi: 10.3390/jpm10040281

Figure 2.

Figure 2

Patient 3 had facial dysmorphic feature, hypotonia, and orogastric tube dependency after birth. (A) His toenails were hypoplastic (arrow). Seizure onset occurred at 3 months old. (B) Normal toenails in a healthy infant. (C) The image of the head ultrasound was unremarkable. (D) The WES and sequencing results indicated a novel de novo (no mutation in both parents) mutation in the SMARCA4 gene. The arrow indicates a G-to-A substitution at nucleotide 3595 (c.3595G > A, p.Val1199Met) in the patient (arrow), father, and mother. At 2 years, the patient was not able to sit without support.