Recessive MYH3 variants cause "Contractures, pterygia, and variable skeletal fusions syndrome 1B" mimicking Escobar variant multiple pterygium syndrome

Anna H. Hakonen, Johanna Lehtonen, Sirpa Kivirikko, Riikka Keski-Filppula, Jukka Moilanen, Reetta Kivisaari, Henrikki Almusa, Eveliina Jakkula, Janna Saarela, Kristiina Avela, Kristiina Aittomäki

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
JournalAmerican journal of medical genetics. Part A
Volume182
Issue number11
Pages (from-to)2605-2610
Number of pages6
ISSN1552-4825
DOIs
Publication statusPublished - Nov 2020
MoE publication typeA1 Journal article-refereed

Fields of Science

  • arthrogryposis
  • "Contractures, pterygia, and variable skeletal fusions syndrome 1B"
  • CPSKF1B
  • Escobar variant of multiple pterygium syndrome
  • MYH3
  • spondylocarpotarsal synostosis syndrome
  • MUTATIONS
  • PERFORMANCE
  • 3111 Biomedicine
  • 1184 Genetics, developmental biology, physiology

Cite this