Fig. 2
From: Novel pathogenic NPR2 variants in short stature patients and the therapeutic response to rhGH
NPR2 gene variants in the patients and their family members. Squares represent males and circles represent females. The proband is indicated by an arrow. Black-filled symbols indicate subjects with NPR2 gene variants. (A) Sanger sequencing chromatograms show that patient 1 carries the heterozygous c.1579 C > T variant. The parents do not carry the variant. (B) Sanger sequencing chromatograms show that patient 2 and her mother (I-2) carry the heterozygous c.2842dupC variant. (C) Sequence conservation of mutated amino acids. Arrows point to the positions of Leu527Phe variants