Neurocognitive follow-up in adult siblings with Phelan-McDermid syndrome due to a novel SHANK3 splicing site mutation

Minna Kankuri-Tammilehto, Oili Sauna-aho, Maria Arvio

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
Article numbere1780
JournalMolecular Genetics & Genomic Medicine
Volume9
Issue number12
Number of pages5
ISSN2324-9269
DOIs
Publication statusPublished - Dec 2021
MoE publication typeA1 Journal article-refereed

Fields of Science

  • infantile autism
  • intellectual disability
  • mosaicism
  • Phelan-McDermid syndrome
  • SHANK3 splicing site mutation
  • VARIANTS
  • SPECTRUM
  • ITPA
  • 1184 Genetics, developmental biology, physiology

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