Spectrum of Clinical Manifestations in Turkish Patients with Williams-Beuren Syndrome: A Monocentric Study

• Κύριοι συγγραφείς: Semra Gürsoy (Συγγραφέας), Filiz Hazan (Συγγραφέας), Cüneyt Zihni (Συγγραφέας), Sezer Acar (Συγγραφέας), Murat Muhtar Yılmazer (Συγγραφέας), Timur Meşe (Συγγραφέας), Behzat Özkan (Συγγραφέας)
• Μορφή: Βιβλίο
• Έκδοση: Galenos Yayinevi, 2021-09-01T00:00:00Z.
• Θέματα: article
• Διαθέσιμο Online: Connect to this object online.

Aim:Williams-Beuren syndrome, which is characterized by dysmorphic facial features, cardiovascular findings, intellectual disability, endocrine abnormalities and a typical cognitive profile, is caused by a microdeletion in the 7q11.23 region. In this study, we aimed to evaluate the dysmorphic and cl...