Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples

We report on two siblings suffering from different pathogenic conditions, born to consanguineous parents. A multigene panel for brain malformations and microcephaly identified the homozygous splicing variant NM_005886.3:c.1416+1del in the KATNB1 gene in the older sister. On the other hand, exome seq...

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Detalles Bibliográficos
Autores principales: Peluso, Francesca, Caraffi, Stefano Giuseppe, Zuntini, Roberta, Trimarchi, Gabriele, Ivanovski, Ivan, Valeri, Lara, Barbieri, Veronica, Marinelli, Maria, Pancaldi, Alessia, Melli, Nives, Cesario, Claudia, Agolini, Emanuele, Cellini, Elena, Radio, Francesca Clementina, Crisafi, Antonella, Napoli, Manuela, Guerrini, Renzo, Tartaglia, Marco, Novelli, Antonio, Gargano, Giancarlo, Zuffardi, Orsetta, Garavelli, Livia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8303193/
https://www.ncbi.nlm.nih.gov/pubmed/34202629
http://dx.doi.org/10.3390/genes12070962

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8303193/
https://www.ncbi.nlm.nih.gov/pubmed/34202629
http://dx.doi.org/10.3390/genes12070962

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