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

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

Abstract 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...

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Bibliographic Details
Main Authors: Juan L. García-Hernández, Luis A. Corchete, Íñigo Marcos-Alcalde, Paulino Gómez-Puertas, Carmen Fons, Pedro A. Lazo
Format: Article
Language:English
Published: BMC 2021-02-01
Series:Human Genomics
Subjects:
CNV
Variome
Dystonia
Cerebral palsy
Neuromotor delay
Epilepsy
Online Access:https://doi.org/10.1186/s40246-021-00309-4

Internet

https://doi.org/10.1186/s40246-021-00309-4

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