Fig. 2

Gestational age and birth weight of 115 PPHN patients and schematic representation of functional domains and locations of variants in the 6 PAH disease gene proteins. a Birth weight (g) was plotted on the y axis and gestational age was plotted on the x axis. One dot represents one patient. Red dots were patients identified with genetic variants. b The figure shows variants in the TBX4, BMPR2, SMAD9, TGFB1, KCNA5 and TRPC6 proteins. Missense pathogenic/likely pathogenic (P/LP) variants are indicated with solid circles; missense variants with unknown significance (VUSs) are indicated with hollow circles; and one pathogenic stop-gain variant is indicated with a square. TM: transmembrane region; SP: signal peptide; ANK: ankyrin