Yazar "Mitter, D." için Fakülteler listeleme
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Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation
Kouz, K.; Lissewski, C.; Spranger, S.; Mitter, D.; Riess, A.; Lopez-Gonzalez, V.; Zenker, M. (Nature Publishing Group, 2016)Purpose:Noonan syndrome (NS) is an autosomal-dominant disorder characterized by craniofacial dysmorphism, growth retardation, cardiac abnormalities, and learning difficulties. It belongs to the RASopathies, which are caused ...