PMC9617560_01
PMC9617560_02
Functional protein association network using NF1 gene and genes associated to hypospadias in the literature. Interaction score was set at high confidence (0.7). Color lines between two nodes/proteins indicate a known interaction between proteins (pink: from curated databases; blue: experimentally determined), co-expression (black) or a predicted interaction (light green: text mining).
PGPM-15-873-g0001.jpg
PMC9617560_02_PGPM-15-873-g0001.jpg
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Furthermore, the protein coded by NR5A1 interacts with the products of the other genes used in the analysis such as WT1, CYP11A1, and HSD3B2 (Figure 1).
PMC9617560_03
PMC9617560_04
7-year-old patient. (A) Multiple cafe-au-lait macules in trunk and upper extremities, and axillary freckling. (B) Whole spine X-ray revealing thoracic scoliosis with right-sided curvature involving T7-T12, approximate angle of 42 , without spinal rotation. (C) Shawl and slightly hypoplastic scrotum and glandular hypospadias.
PGPM-15-873-g0002.jpg
PMC9617560_04_PGPM-15-873-g0002.jpg
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Physical examination at the current age (10 years old) showed freckling in the axillary and inguinal regions, shawl and slightly hypoplastic scrotum (Figure 2) and more than one hundred CALMs ranging in size from 0.5 to 1.5 cm with a generalized distribution, including palms of the hands and the soles of the feet.