Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome

A. Putoux*, A. Alqahtani, L. Pinson, A. D. C. Paulussen, J. Michel, A. Besson, S. Mazoyer, I. Borg, S. Nampoothiri, A. Vasiljevic, A. Uwineza, D. Boggio, F. Champion, C. E. de Die-Smulders, T. Gardeitchik, W. K. van Putten, M. J. Perez, Y. Musizzano, F. Razavi, S. DrunatA. Verloes, R. Hennekam, L. Guibaud, E. Alix, D. Sanlaville, G. Lesca, P. Edery

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

8 Citations (Web of Science)
Original languageEnglish
Pages (from-to)550-555
JournalClinical Genetics
Volume90
Issue number6
DOIs
Publication statusPublished - Dec 2016

Keywords

  • corpus callosum agenesis
  • dwarfism
  • microcephalic osteodysplastic primordial dwarfisms
  • microcephaly
  • RNU4ATAC
  • spliceosome
  • Taybi-Linder syndrome

Cite this