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