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Article

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

Human genomics - 8 Feb 2021

García-Hernández Juan L, Corchete Luis A, Marcos-Alcalde Íñigo, Gómez-Puertas Paulino, Fons Carmen, Lazo Pedro A

Abstract excerpt

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 neurological phenotype, we studied as a test case a boy, with a KCNQ2 exon-7 partial duplication, by single-nucleotide...

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Identifiers

PMID: 33557955
DOI: 10.1186/s40246-021-00309-4
PMCID: PMC7871650

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