Recurrence and Familial Inheritance of Intronic NIPBL Pathogenic Variant Associated With Mild CdLS

Splicing pathogenic variants account for a notable fraction of NIPBL alterations underlying Cornelia de Lange syndrome but are likely underrepresented, due to overlooking of non-canonical intronic variants by traditional and contemporary sequencing methods. We describe five subjects, belonging to th...

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Detalles Bibliográficos
Autores principales: Masciadri, Maura, Ficcadenti, Anna, Milani, Donatella, Cogliati, Francesca, Divizia, Maria Teresa, Larizza, Lidia, Russo, Silvia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6277459/
https://www.ncbi.nlm.nih.gov/pubmed/30538663
http://dx.doi.org/10.3389/fneur.2018.00967

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6277459/
https://www.ncbi.nlm.nih.gov/pubmed/30538663
http://dx.doi.org/10.3389/fneur.2018.00967

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