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
10.1002/mgg3.511
Mol Genet Genomic Med
2019 Jan;7(1):e00511.
smarce1 angelman syndrome (as) coffin-siris syndrome (css) exome sequencing
CC BY
https://pubmed.ncbi.nlm.nih.gov/30548424/
Angelman Syndrome / genetics Chromosomal Proteins, Non-Histone / genetics DNA-Binding Proteins / genetics Phenotype
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
PMC6382443
30548424
Identification of a de novo splicing variant in the Coffin-Siris gene, SMARCE1, in a patient with Angelman-like syndrome
2019