case_images: PMC10909829_01
case_images: Family pedigree by Sanger sequencing of the available family members. The heterozygous genotypes of the nuclear family (V.1, IV.2, and VI.1) and the homozygous variant in the index case (VI.2) are shown with the red arrows.
case_images: fped-12-1284671-g001.jpg
case_images: PMC10909829_01_fped-12-1284671-g001.jpg
case_images: F1
case_images: The segregation analysis by Sanger sequencing confirmed the heterozygous state of both parents (PM3) (Figure 1), and the patient's phenotype history is highly specific for a disease with a single genetic etiology (PP4).
case_images: PMC10909829_02
case_images: Patient s anthropometric assessment.
case_images: fped-12-1284671-g002.jpg
case_images: PMC10909829_02_fped-12-1284671-g002.jpg
case_images: F2
case_images: Nephrological follow-up will continue in Tabasco, and nutritional follow-up is ongoing at the National Institute of Pediatrics in Mexico City (Figure 2).