Fig. 2: Genotype distribution in RASopathy patients according to prenatal ultrasound (US) findings. | Genetics in Medicine

Fig. 2: Genotype distribution in RASopathy patients according to prenatal ultrasound (US) findings.

From: When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort

Fig. 2: Genotype distribution in RASopathy patients according to prenatal ultrasound (US) findings.

Gene-specific contributions to suggestive prenatal phenotypic features for the 72 patients with a positive result and available longitudinal data (47 prenatal and 25 postnatal positive cases). CH cystic hygroma, CHD congenital heart disease, HCM hypertrophic cardiomyopathy. Others: BRAF, CBL, MAP2K1, NRAS, RASA1, and SOS2.

Back to article page