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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| Auteurs principaux: | , , , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Cambridge University Press
2022-06-01
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| Collection: | European Psychiatry |
| Sujets: | |
| Accès en ligne: | https://www.cambridge.org/core/product/identifier/S0924933822009683/type/journal_article |
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