Article

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

2021-01-28

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> Complex developmental encephalopathy syndromes might be the consequence of unknown genetic alterations are likely to contribute to the full neurological phenotype as a consequence of pathogenic gene combinations. <bold>Methods: </bold>To identify the additional genetic contribution to the neurological phenotype, we studied as a test case a boy, with a <italic>KC...

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Literature Corpus work: 03fcf7c3-0e23-5613-b2f9-d84974bdb9dc
DOI: 10.21203/rs.3.rs-113423/v2

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