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
Issue number6
Publication statusPublished - Dec 2016


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

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