Neuronal migration genes and a familial translocation t (3;17): candidate genes implicated in the phenotype

• Main Authors: Meriam Hadj Amor (Author), Sarra Dimassi (Author), Amel Taj (Author), Wafa Slimani (Author), Hanene Hannachi (Author), Adnene Mlika (Author), Khaled Ben Helel (Author), Ali Saad (Author), Soumaya Mougou-Zerelli (Author)
• 格式: 圖書
• 出版: BMC, 2020-02-01T00:00:00Z.
• 主題: article
• 在線閱讀: Connect to this object online.

Abstract Background While Miller-Dieker syndrome critical region deletions are well known delineated anomalies, submicroscopic duplications in this region have recently emerged as a new distinctive syndrome. So far, only few cases have been described overlapping 17p13.3 duplications. Methods In this...