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Prevalence (%) of clinical parameters based on data from 2 references describing 50 individuals Add new symptom/sign to this disease
List of symptoms
List of references: - Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes. J Piard, B Aral, P Vabres, M Holder-Espinasse, A Mégarbané, S Gauthier, V Capra, G Pierquin, P Callier, C Baumann, L Pasquier, G Baujat, L Martorell, A Rodriguez, A F Brady, F Boralevi, M A González-Enseñat, M Rio, C Bodemer, N Philip, M-P Cordier, A Goldenberg, B Demeer, M Wright, E Blair, E Puzenat, P Parent, Y Sznajer, C Francannet, N DiDonato, O Boute, V Barlogis, O Moldovan, D Bessis, C Coubes, M Tardieu, V Cormier-Daire, A B Sousa, J Franques, A Toutain, M Tajir, S C Elalaoui, D Geneviève, J Thevenon, J-B Courcet, J-B Rivière, C Collet, N Gigot, L Faivre, C Thauvin-Robinet, Clinical genetics - Mar 2015 |