Publication
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome
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, Saskia M. Maas, Adam C. Shaw, Hennie Bikker, Hermann-Josef Lüdecke, 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 Grønborg, Johanna C. Herkert, A. Jeannette M. Hoogeboom, Aleksander Jamsheer, Anna Latos-Bielenska, Anneke Maat-Kievit, Cinzia Magnani, Carlo Marcelis, Inge B. Mathijssen, Maartje Nielsen, Ellen Otten, Lilian B. Ousager
European Journal of Medical Genetics, May 2015, Elsevier
DOI: 10.1016/j.ejmg.2015.03.002