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Article

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

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 case...

Meriam Hadj Amor, Sarra Dimassi, Amel Taj, Wafa Slimani… in BMC Medical Genetics (2020)