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

Research output: Contribution to journalArticleAcademicpeer-review

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

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