Identification of a de novo splicing variant in the Coffin-Siris gene, SMARCE1, in a patient with Angelman-like syndrome.
Cinthia AguileraElisabeth GabauSteve LaurieNeus BaenaSophia DerdakNúria CapdevilaAriadna RamirezVeronica DelgadilloMaria Jesus García-CatalanCarme BrunMiriam GuitartAnna RuizPublished in: Molecular genetics & genomic medicine (2018)
Taking into account the novel finding reported in this study, we consider that CSS should be added to the expanding list of differential diagnoses for AS.