case_images: PMC11725557_01
case_images: PMC11725557_02
case_images: The affected siblings were homozygous for NM_015705.6: C.1576C>T: P.(Arg526Ter) variant in SGSM3 gene. His healthy brother and parents were heterozygous for this variant.
case_images: CGE-107-196-g001.jpg
case_images: PMC11725557_02_CGE-107-196-g001.jpg
case_images: cge14631-fig-0001
case_images: This variant was heterozygous in healthy parents and the brother (Figure 1).