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