3q29 microduplication syndrome: New evidence for the refinement of the critical region

BACKGROUND: The 3q29 microduplication syndrome is a rare genomic disorder characterized by an extremely variable neurodevelopmental phenotype usually involving a genomic region ranging from 1.6 to 1.76 Mb. A small microduplication of 448.8 Kb containing only two genes was recently described in a pat...

Descripción completa

Detalles Bibliográficos
Autores principales: Bauleo, Alessia, Pace, Vincenza, Montesanto, Alberto, De Stefano, Laura, Brando, Rossella, Puntorieri, Domenica, Cento, Luca, Genuardi, Maurizio, Falcone, Elena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10094080/
https://www.ncbi.nlm.nih.gov/pubmed/36691815
http://dx.doi.org/10.1002/mgg3.2130

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10094080/
https://www.ncbi.nlm.nih.gov/pubmed/36691815
http://dx.doi.org/10.1002/mgg3.2130

Ejemplares similares