Fig. 2 | Scientific Reports

Fig. 2

From: Gene signatures and genotype-phenotype correlations of sensorineural hearing loss in Noonan syndrome and related RASopathies

Fig. 2

Clinical profiles of the PTPN11 variant cohort between those with hearing loss (hearing loss group) and without hearing loss (normal hearing group) as well as within the overall cohort were compared. (A) Among the total cohort, 18 (19.1%) exhibited hearing loss, predominantly with PTPN11 (N = 16, 88.9%) and RAF1 (N = 2, 11.1%) variants. (B–K) A comparative analysis of the prevalence of clinical phenotypes (i.e. craniofacial anomaly, skeletal anomaly, cardiac defects, pectus deformity, skin/hair anomaly, multiple lentigines, intellectual disability, cryptorchidism in male, malignancy, and coagulation disorder) between patients with and without hearing loss using an in-house database are illustrated within the PTPN11 cohort.

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