Spectrum of mutations in PTPN11 and genotype - Phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome

Luciana Musante, Hans G. Kehl, Frank Majewski, Peter Meinecke, Susann Schweiger, Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, Georg K. Hinkel, Sigrid Tinschert, Maria Hoeltzenbein, Hans Hilger Ropers, Vera M. Kalscheuer*

*Corresponding author for this work
114 Citations (Scopus)

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Medicine & Life Sciences