7p22.2 Microduplication: A Pathogenic CNV?

Partial duplication of the short arm of chromosome 7 is a rare chromosome rearrangement. The phenotype spectrum associated with this rearrangement is extremely variable even if in the last decade the use of high-resolution microarray technology for the investigation of patients carrying this rearran...

Descripción completa

Detalles Bibliográficos
Autores principales: Bauleo, Alessia, Montesanto, Alberto, Pace, Vincenza, Guarasci, Francesco, Apa, Rosalbina, Brando, Rossella, De Stefano, Laura, Sestito, Simona, Concolino, Daniela, Falcone, Elena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10297997/
https://www.ncbi.nlm.nih.gov/pubmed/37372471
http://dx.doi.org/10.3390/genes14061292

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10297997/
https://www.ncbi.nlm.nih.gov/pubmed/37372471
http://dx.doi.org/10.3390/genes14061292

Ejemplares similares