PTPN11 and FLNA variants in a boy with ambiguous genitalia, short stature, and non-specific dysmorphic features
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Noonan syndrome is a congenital disorder characterized by distinctive facial appearance, congenital heart defects, short stature, and skeletal dysplasia. Although boys with Noonan syndrome frequently exhibit cryptorchidism, a mild form of 46,XY disorders of se... ...
