@article{3212472a55e440d6a8e395c5bbf5686e,
title = "Neurocognitive follow-up in adult siblings with Phelan-McDermid syndrome due to a novel SHANK3 splicing site mutation",
keywords = "infantile autism, intellectual disability, mosaicism, Phelan-McDermid syndrome, SHANK3 splicing site mutation, VARIANTS, SPECTRUM, ITPA, 1184 Genetics, developmental biology, physiology",
author = "Minna Kankuri-Tammilehto and Oili Sauna-aho and Maria Arvio",
year = "2021",
month = dec,
doi = "10.1002/mgg3.1780",
language = "English",
volume = "9",
journal = "Molecular Genetics & Genomic Medicine",
issn = "2324-9269",
publisher = "Wiley",
number = "12",
}