SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy

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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