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Biallelic intragenic duplication in ADGRB3 (BAI3) gene associated with intellectual disability, cerebellar atrophy, and behavioral disorder
In recent years, chromosomal microarray analysis has permitted the discovery of rearrangements underlying several neurodevelopmental disorders and still represents the first diagnostic test for unexplained neurodevelopmental disabilities. Here we report a family of consanguineous parents showing psy...
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| Опубликовано в: : | Eur J Hum Genet |
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| Главные авторы: | , , , , , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Springer International Publishing
2019
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| Предметы: | |
| Online-ссылка: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6460634/ https://ncbi.nlm.nih.gov/pubmed/30659260 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-018-0321-1 |
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