Figure 1 | Genetics in Medicine

Figure 1

From: Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

Figure 1

Diagnostic rate of PIK3CA sequencing. (a) Total number of syndromic (dark gray) and isolated cases (light gray) by phenotype (with and without MEG/HMEG). (b) Primary tissues tested for all patients and by phenotype. (c) Molecular diagnostic rate as percentage of total cases in all patients and by phenotype. Numbers of cases with and without disease-causing PIK3CA mutations are shown in dark and light gray, respectively. *P < 0.05 for significant differences in diagnostic rates between syndromic and isolated cases. (d) Molecular diagnostic rate by primary tissue tested.

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