Pathogenic convergence of CNVs in genes functionally associated to a severe neuromotor developmental delay syndrome

BACKGROUND: Complex developmental encephalopathy syndromes might be the consequence of unknown genetic alterations that are likely to contribute to the full neurological phenotype as a consequence of pathogenic gene combinations. METHODS: To identify the additional genetic contribution to the neurol...

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Detalles Bibliográficos
Autores principales: García-Hernández, Juan L., Corchete, Luis A., Marcos-Alcalde, Íñigo, Gómez-Puertas, Paulino, Fons, Carmen, Lazo, Pedro A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Primary Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7871650/
https://www.ncbi.nlm.nih.gov/pubmed/33557955
http://dx.doi.org/10.1186/s40246-021-00309-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7871650/
https://www.ncbi.nlm.nih.gov/pubmed/33557955
http://dx.doi.org/10.1186/s40246-021-00309-4

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