Concomitant CNVs in healthy carriers with 7q31.1 microdeletions may suppress intellectual disability and autism spectrum disorders phenotype

Introduction About 66% of chromosomal microdeletions and microduplications associated with pathological conditions are inherited [Smajlagić D. et al., 2021]. The mechanisms of incomplete penetrance and variable expressivity of CNV are not fully understood. The presence of concomitant CNVs in the ge...

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Bibliographic Details
Main Authors: E. Belyaeva, A. Kashevarova, G. Drozdov, D. Fedotov, I. Lebedev
Format: Article
Language:English
Published: Cambridge University Press 2022-06-01
Series:European Psychiatry
Subjects:
Online Access:https://www.cambridge.org/core/product/identifier/S0924933822009683/type/journal_article