The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification

Lena-Luise Becker, Hormos Salimi Dafsari, Jens Schallner, Dalia Abdin, Michael Seifert, Florence Petit, Thomas Smol, Levinus Bok, Lance Rodan, Ingrid Krapels, Stephanie Spranger, Bernhard Weschke, Katherine Johnson, Volker Straub, Angela M. Kaindl, Nataliya Di Donato, Maja von der Hagen, Sebahattin Cirak

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)1003-1017
Number of pages15
JournalJournal of Human Genetics
Volume65
Issue number11
DOIs
Publication statusPublished - Nov 2020

Keywords

  • SPINAL MUSCULAR-ATROPHY
  • LOWER-EXTREMITY
  • INTELLECTUAL DISABILITY
  • CORTICAL DEVELOPMENT
  • GENETIC-VARIATION
  • MUTATIONS
  • DYNC1H1
  • SPECTRUM
  • MALFORMATIONS
  • VARIANTS

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