Further Delineation of the Phenotype of Noonan Syndrome with Loose Anagen Hair Due to De Novo Missense Variants in the PPP1CB Gene
Erika Leenders, Luisa Kocherscheid,Francesca Pantaleoni,Nathalie Pouvreau,Christina Lissewski,Susanne Kamphausen,Julia Brinkmann, Alice Bonnard,Denny Schanze,Marialisa Dentici,Maria Cristina Digilio,Laura Mazzanti,Hulya Kayserili,Pelin Ozlem Simsek-Kiper,Heide Seidel,Kerstin Kutsche, Nicole Fleisher,David Koolen,Brian Hon Yin Chung, Jasmine Fung,Austin Larson, Lysa Minasi,Tzung-Chien Hsieh,Peter Krawitz,Marwan Shinawi,Yolande Van Bever,Odile Boute,Hartmut Engels, Maike Grootenhaar,Tuula Rinne,Karen Gripp,Helene Cave,Marja Wessels,Alain Verloes,Marco Tartaglia,Martin Zenker EUROPEAN JOURNAL OF HUMAN GENETICS(2023)
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