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

  title={Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.},
  author={Saskia M. Maas and Adam C. Shaw and H. Bikker and H. -J. L{\"u}decke and Karin van der Tuin and Magdalena Badura-Stronka and Elga Belligni and Elisa Biamino and Maria Teresa Bonati and Daniel Rocha Carvalho and JanMaarten Cobben and Stella A. de Man and Nicolette S. den Hollander and Nataliya Di Donato and Livia Garavelli and Sabine Gr\onborg and Johanna C. Herkert and A. Jeannette M. Hoogeboom and Aleksander Jamsheer and Anna Latos-Bieleńska and Anneke J A Maat-Kievit and Cinzia Magnani and Carlo L Marcelis and Inge B. Mathijssen and Maartje Nielsen and Ellen Otten and Lilian Bomme Ousager and Jacek Pilch and Astrid S. Plomp and Gemma Poke and Anna Poluha and Renata Posmyk and Claudine Rieubland and Margharita Silengo and Marleen E H Simon and Elisabeth Steichen and Connie T. R. M. Stumpel and Katalin Szakszon and Edit Polonkai and Jenneke J van den Ende and Antony van der Steen and Ton van Essen and Arie van Haeringen and Johanna Maria Van Hagen and Joke B. G. M. Verheij and Marcel M. A. M. Mannens and Raoul C Hennekam},
  journal={European journal of medical genetics},
  volume={58 5},
Tricho-rhino-phalangeal syndrome (TRPS) is characterized by craniofacial and skeletal abnormalities, and subdivided in TRPS I, caused by mutations in TRPS1, and TRPS II, caused by a contiguous gene deletion affecting (amongst others) TRPS1 and EXT1. We performed a collaborative international study to delineate phenotype, natural history, variability, and genotype-phenotype correlations in more detail. We gathered information on 103 cytogenetically or molecularly confirmed affected individuals… CONTINUE READING