Publication
Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations
Sandra Mercier, Sébastien Küry, Emmanuelle Salort-Campana, Armelle Magot, Uchenna Agbim, Thomas Besnard, Nathalie Bodak, Chantal Bou-Hanna, Flora Bréhéret, Perrine Brunelle, Florence Caillon, Brigitte Chabrol, Valérie Cormier-Daire, Albert David, Bruno Eymard, Laurence Faivre, Dominique Figarella-Branger, Emmanuelle Fleurence, Mythily Ganapathi, Romain Gherardi, Alice Goldenberg, Antoine Hamel, Jeanine Igual, Alan D. Irvine, Dominique Israël-Biet, Caroline Kannengiesser, Christian Laboisse, Cédric Le Caignec, Jean-Yves Mahé, Stéphanie Mallet, Stuart MacGowan, Maeve A. McAleer, Irwin McLean, Cécile Méni, Arnold Munnich, Jean-Marie Mussini, Peter L. Nagy, Jeffrey Odel, Grainne M. O’Regan, Yann Péréon, Julie Perrier, Juliette Piard, Eve Puzenat, Jacinda B. Sampson, Frances Smith, Nadem Soufir, Kurenai Tanji, Christel Thauvin, Christina Ulane, Rosemarie M. Watson, Nonhlanhla P. Khumalo, Bongani M. Mayosi, Sébastien Barbarot, Stéphane Bézieau
Orphanet Journal of Rare Diseases, October 2015, Springer Science + Business Media
DOI: 10.1186/s13023-015-0352-4