Fig. 1
From: Expanding the genotypic and phenotypic spectrum of Egyptian children with maple syrup urine disease
Family pedigrees and genetic variants in affected maple syrup urine disease (MSUD) patients. (A) Family pedigrees of all recruited children. (B) Detected genetic variants in BCKDHA, BCKDHB and DBT genes. All detected variants fully segregated in all tested family members (homozygous in the MSUD patients and heterozygous in their parents) consistent with the autosomal recessive inheritance nature of the disease. NM_number represents each gene transcript. H homozygous, h heterozygous, A adenine, C cytosine, G guanine, T thymine.
