case_images: PMC9532011_01
case_images: (A) Family pedigree; the arrow indicates the proband. (B) The homozygous GCH1 c.604G > A variant detected in the patient (p); the parents were heterozygous for this mutation (f,m). The figure shows reverse strand verification. (C) The conserved reside corresponding to the site of the missense variant is shown in red.
case_images: fgene-13-929069-g001.jpg
case_images: PMC9532011_01_fgene-13-929069-g001.jpg
case_images: F1
case_images: Both parents, who were asymptomatic, were heterozygous for this mutation (Figure 1).