In the present study, we investigated the DNA of 56 additional fetuses with a normal karyotype and one or more abnormal ultrasound findings for a mutation in one or more of the NS genes in a ...

in four cases with a severe pre- or neo-natal lethal presentation of Noonan syndrome. These cases support the hypothesis that these stronger gain-of-function variants are rarely compatible with life.

Noonan syndrome is associated with gastrointestinal dysfunction and feeding difficulties in children. We report the case of a 64-year-old man with Noonan syndrome who was admitted to the hospital ...