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Paper Details

De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.
Am J Med Genet A
4
2020
CDC42, CDC42BPB, MRCK, Takenouchi-Kosaki syndrome, agenesis/hypoplasia of, amino acid, autism, autosomal dominant neurodevelopmental disorder, cerebellar vermis hypoplasia, citron, developmental delay, haploinsufficiency, homology, hypotonia, intellectual disability, missense variants, myotonic dystrophy, myotonic dystrophy-related Cdc42-binding kinase beta, neurodevelopmental, neurodevelopmental disorders, serine, serine/threonine protein kinase, structural brain abnormalities, threonine
Author NameAffiliation
Angelo SelicorniSant'Anna Hospital
Wendy K ChungColumbia University
Wendy K ChungColumbia University
Wendy K ChungColumbia University
Wendy K ChungColumbia University
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