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Paper Details

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.
Am J Hum Genet
52
2019
ATP, BAF, BAF complex, BAF-Related Disorders, BAF-complex subunits, BAF170, BRG1-associated factor, CACNB4, Coffin-Siris and Nicolaides-Baraitser syndromes, Developmental Delay, H19, Intellectual Disability, RELN, SANT, SCRG1, SMARCC2, SMARCC2 DNA, SMARCC2 DNA-interacting domains, SMARCC2-related syndrome, behavioral abnormalities, cardiac abnormalities, differentially expressed genes, dysmorphic features, fibroblasts, growth retardation, human, hypertrichosis, hypotonia, intellectual disability syndromes, neurodevelopmental delay, neurodevelopmental disorders, speech impairment, thick eyebrows, thin upper lip vermilion, upturned nose
Author NameAffiliation
Rebecca C SpillmannDuke University School of Medicine
Jennifer A SullivanDuke University School of Medicine
Vandana ShashiDuke University School of Medicine
Yong-Hui JiangDuke University School of Medicine
Megan T Cho
Tony RoscioliUniversity of New South Wales, Australia Centre for Clinical Genetics, Sydney Children's Hospital
Sakkubai NaiduKennedy Krieger Institute
Ian D KrantzThe Children's Hospital of Philadelphia and the Perelman School of Medicine at The University of Pennsylvania
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