Identification of a de novo splicing variant in the Coffin –Siris gene, SMARCE1, in a patient with Angelman‐like syndrome

ConclusionsTaking 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.

Source: Molecular Genetics & Genomic Medicine - December 11, 2018 Category: Genetics & Stem Cells Authors: Cinthia Aguilera, Elisabeth Gabau, Steve Laurie, Neus Baena, Sophia Derdak, N úria Capdevila, Ariadna Ramirez, Veronica Delgadillo, Maria Jesus García‐Catalan, Carme Brun, Miriam Guitart, Anna Ruiz Tags: ORIGINAL ARTICLE Source Type: research