article_metadata: Cinthia Aguilera Elisabeth Gabau Steve Laurie Neus Baena Sophia Derdak Núria Capdevila Ariadna Ramirez Veronica Delgadillo Maria Jesus García-Catalan Carme Brun Miriam Guitart Anna Ruiz
article_metadata: 10.1002/mgg3.511
article_metadata: Mol Genet Genomic Med
article_metadata: 2019 Jan;7(1):e00511.
article_metadata: smarce1 angelman syndrome (as) coffin-siris syndrome (css) exome sequencing
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/30548424/
article_metadata: Angelman Syndrome / genetics Chromosomal Proteins, Non-Histone / genetics DNA-Binding Proteins / genetics Phenotype
article_metadata: Angelman Syndrome / genetics Chromosomal Proteins, Non-Histone / genetics DNA-Binding Proteins / genetics Phenotype Case Reports Research Support, Non-U.S. Gov't Adolescent Angelman Syndrome / pathology Exome Humans Male Mutation, Missense RNA Splicing Chromosomal Proteins, Non-Histone DNA-Binding Proteins SMARCE1 protein, human
article_metadata: PMC6382443
article_metadata: 30548424
article_metadata: Identification of a de novo splicing variant in the Coffin-Siris gene, SMARCE1, in a patient with Angelman-like syndrome
article_metadata: 2019