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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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Библиографические подробности
Опубликовано в: :Eur J Hum Genet
Главные авторы: Scuderi, Carmela, Saccuzzo, Lucia, Vinci, Mirella, Castiglia, Lucia, Galesi, Ornella, Salemi, Michele, Mattina, Teresa, Borgione, Eugenia, Città, Santina, Romano, Corrado, Fichera, Marco
Формат: Artigo
Язык:Inglês
Опубликовано: Springer International Publishing 2019
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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