Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome

Saskia M. Maas, Adam C. Shaw, Hennie Bikker, Hermann-Josef Luedecke, Karin van der Tuin, Magdalena Badura-Stronka, Elga Belligni, Elisa Biamino, Maria Teresa Bonati, Daniel R. Carvalho, JanMaarten Cobben, Stella A. de Man, Nicolette S. Den Hollander, Nataliya Di Donato, Livia Garavelli, Sabine Gronborg, Johanna C. Herkert, A. Jeannette M. Hoogeboom, Aleksander Jamsheer, Anna Latos-BielenskaAnneke Maat-Kievit, Cinzia Magnani, Carlo Marcelis, Inge B. Mathijssen, Maartje Nielsen, Ellen Otten, Lilian B. Ousager, Jacek Pilch, Astrid Plomp, Gemma Poke, Anna Poluha, Renata Posmyk, Claudine Rieubland, Margharita Silengo, Marleen Simon, Elisabeth Steichen, Connie Stumpel, Katalin Szakszon, Edit Polonkai, Jenneke van den Ende, Antony van der Steen, Ton van Essen, Arie van Haeringen, Johanna M. van Hagen, Joke B. G. M. Verheij, Marcel M. Mannens, Raoul C. Hennekam

Research output: Contribution to journalArticleAcademicpeer-review

12 Citations (Scopus)
Original languageEnglish
Pages (from-to)279-292
JournalEuropean Journal of Medical Genetics
Volume58
Issue number5
DOIs
Publication statusPublished - May 2015

Keywords

  • Tricho-rhino-phalangeal syndrome
  • TRPS
  • Langer-Giedion syndrome
  • TRPS1
  • Multiple exostoses
  • EXT1
  • RAD21
  • Natural history
  • Genotype
  • Phenotype
  • Review

Cite this

Maas, S. M., Shaw, A. C., Bikker, H., Luedecke, H-J., van der Tuin, K., Badura-Stronka, M., Belligni, E., Biamino, E., Bonati, M. T., Carvalho, D. R., Cobben, J., de Man, S. A., Den Hollander, N. S., Di Donato, N., Garavelli, L., Gronborg, S., Herkert, J. C., Hoogeboom, A. J. M., Jamsheer, A., ... Hennekam, R. C. (2015). Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome. European Journal of Medical Genetics, 58(5), 279-292. https://doi.org/10.1016/j.ejmg.2015.03.002