Three case reports of patients indicating the diversity of molecular and clinical features of 16p11.2 microdeletion anomaly

• Κύριοι συγγραφείς: Monika Szelest (Συγγραφέας), Martyna Stefaniak (Συγγραφέας), Gabriela Ręka (Συγγραφέας), Ilona Jaszczuk (Συγγραφέας), Monika Lejman (Συγγραφέας)
• Μορφή: Βιβλίο
• Έκδοση: BMC, 2021-03-01T00:00:00Z.
• Θέματα: article
• Διαθέσιμο Online: Connect to this object online.

Abstract Background 16p11.2 microdeletion is a known chromosomal anomaly associated mainly with neurocognitive developmental delay, predisposition to obesity, and variable dysmorphism. Although this deletion is relatively rare among the general population, it is one of the serious known genetic aeti...