SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy

Anna H. Hakonen, Anne Polvi, Carola Saloranta, Anders Paetau, Päivi Heikkilä, Henrikki Almusa, Pekka Ellonen, Eveliina Jakkula, Janna Saarela, Kristiina Aittomäki

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
JournalAmerican Journal of Medical Genetics. Part A
Volume179
Issue number7
Pages (from-to)1362-1365
Number of pages4
ISSN1552-4825
DOIs
Publication statusPublished - Jul 2019
MoE publication typeA1 Journal article-refereed

Fields of Science

  • arthrogryposis
  • fetal akinesia deformation sequence
  • multiple pterygium syndrome
  • vesicular acetylcholine transporter
  • VESICULAR ACETYLCHOLINE TRANSPORTER
  • MUTATION
  • TARGET
  • MUSK
  • 3111 Biomedicine
  • 1184 Genetics, developmental biology, physiology

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