Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay
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| Description | scientific article published on 20 December 2018 |
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author: Koen Van Gassen Slavé Petrovski Keren Machol Undiagnosed Diseases Network Philippe M. Campeau Sandra Monfort Sophie Ehresmann Megan T Cho Alfonso Caro-Llopis Katherine L Lachlan Rolph Pfundt Francisco Martinez Carmen Orellana |
| Publication date | December 20, 2018 |
| Language | English |
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