Clinical case. (A) Patient's family tree. The ■ denotes the patient with documented syndromic SCN; and open symbols, unaffected persons. G6PC3 genotype is shown below each symbol. NA indicates not available. (B) Prominent subcutaneous venous circulation detected in the patient. (C) Sequence electropherograms of G6PC3 gene showing the homozygous 1-bp deletion (patient, top line), heterozygous 1-bp deletion (patient's parents, middle line), and wild-type (healthy control, bottom line) genotypes. *Nucleotide position where the 1-bp deletion was detected. (D) Graphic of wild-type G6PC3 protein and predicted changes provoked by the novel homozygous 1-bp deletion detected in the patient.