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

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 study,...

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Detalles Bibliográficos
Autores principales: Hadj Amor, Meriam, Dimassi, Sarra, Taj, Amel, Slimani, Wafa, Hannachi, Hanene, Mlika, Adnene, Ben Helel, Khaled, Saad, Ali, Mougou-Zerelli, Soumaya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7006381/
https://www.ncbi.nlm.nih.gov/pubmed/32028920
http://dx.doi.org/10.1186/s12881-020-0966-9