Cargando…
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...
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: | |
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 |
Ejemplares similares
-
7p22.2 Microduplication: A Pathogenic CNV?
por: Bauleo, Alessia, et al.
Publicado: (2023) -
Phenotype Heterogeneity in 3q29 Microduplication Syndrome
por: STREATA, IOANA, et al.
Publicado: (2020) -
An Unusual Psychiatric Presentation of the 3q29 Microduplication Syndrome
por: Reis, Filipa, et al.
Publicado: (2020) -
Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication
por: Ballif, Blake C, et al.
Publicado: (2008) -
Refining the Clinical Spectrum of the 17p13.3 Microduplication Syndrome: Case-Report of a Familial Small Microduplication
por: Da Silva, Jorge Diogo, et al.
Publicado: (2022)