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

Author(s):
Maas, S.M.; Shaw, A.C.; Bikker, H.; Ludecke, H.J.; Tuin, K. van der (0000-0002-5379-5084); Badura-Stronka, M.; Belligni, E.; Biamino, E.; Bonati, M.T.; Carvalho, D.R.; Cobben, J.; Man, S.A. de; Hollander, N.S. den; Donato, N. di; Garavelli, L.; Gronborg, S.; Herkert, J.C.; Hoogeboom, A.J.M.; Jamsheer, A.; Latos-Bielenska, A.; Maat-Kievit, A.; Magnani, C.; Marcelis, C.; Mathijssen, I.B.; Nielsen, M.; Otten, E.; Ousager, L.B.; Pilch, J.; Plomp, A.; Poke, G.; Poluha, A.; Posmyk, R.; Rieubland, C.; Silengo, M.; Simon, M.; Steichen, E.; Stumpel, C.; Szakszon, K.; Polonkai, E.; Ende, J. van den; Steen, A. van der; Essen, T. van; Haeringen, A. van; Hagen, J.M. van; Verheij, J.B.G.M.; Mannens, M.M.; Hennekam, R.C.
Published
2015
Publication type
Article / Letter to editor
Tricho-rhino-phalangeal syndromeTRPSLanger-Giedion syndromeTRPS1Multiple exostosesEXT1RAD21Natural historyGenotypePhenotypeReview
Date issued
2015-05-31
Language
English
Is part of
European Journal of Medical Genetics (2015), Vol. 58, no. 5, p. 279-292
hdl
1887/107386
doi
10.1016/j.ejmg.2015.03.002