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Home > For Clinicians > List Of Publications > A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations

A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations

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Compound heterozygosity for PTPN11 variants in a subject with Noonan syndrome provides insights into the mechanism of SHP2-related disorders

Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications

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