RP 1 and autosomal dominant rod-cone dystrophy : novel mutations , a review of published variants , and genotype-phenotype correlation

HAL is a multi-disciplinary open access archive for the deposit and dissemination of scientific research documents, whether they are published or not. The documents may come from teaching and research institutions in France or abroad, or from public or private research centers. L’archive ouverte pluridisciplinaire HAL, est destinée au dépôt et à la diffusion de documents scientifiques de niveau recherche, publiés ou non, émanant des établissements d’enseignement et de recherche français ou étrangers, des laboratoires publics ou privés. RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation. Isabelle Audo, Saddek Mohand-Saïd, Claire-Marie Dhaenens, Aurore Germain, Elise Orhan, Aline Antonio, Christian Hamel, José-Alain Sahel, Shomi Bhattacharya, Christina Zeitz