Mutations in PTPN11 could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series

Alessia Pugliese, Adela Della Marina, Eduardo de Paula Estephan, Edmar Zanoteli, Andreas Roos, Ulrike Schara‐Schmidt, Andreas Hentschel, Yoshiteru Azuma, Ana Töpf, Rachel Thompson, Kiran Polavarapu, Hanns Lochmüller