Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations

بواسطة Mercier, Sandra, Küry, Sébastien, Salort-Campana, Emmanuelle, Magot, Armelle, Agbim, Uchenna, Besnard, Thomas, Bodak, Nathalie, Bou-Hanna, Chantal, Bréhéret, Flora, Brunelle, Perrine, Caillon, Florence, Chabrol, Brigitte, Cormier-Daire, Valérie, David, Albert, Eymard, Bruno, Faivre, Laurence, Figarella-Branger, Dominique, Fleurence, Emmanuelle, Ganapathi, Mythily, Gherardi, Romain, Goldenberg, Alice, Hamel, Antoine, Igual, Jeanine, Irvine, Alan D., Israël-Biet, Dominique, Kannengiesser, Caroline, Laboisse, Christian, Le Caignec, Cédric, Mahé, Jean-Yves, Mallet, Stéphanie, MacGowan, Stuart, McAleer, Maeve A., McLean, Irwin, Méni, Cécile, Munnich, Arnold, Mussini, Jean-Marie, Nagy, Peter L., Odel, Jeffrey, O’Regan, Grainne M., Péréon, Yann, Perrier, Julie, Piard, Juliette, Puzenat, Eve, Sampson, Jacinda B., Smith, Frances, Soufir, Nadem, Tanji, Kurenai, Thauvin, Christel, Ulane, Christina, Watson, Rosemarie M., Khumalo, Nonhlanhla P., Mayosi, Bongani M., Barbarot, Sébastien, Bézieau, Stéphane
الحاوية / القاعدة Orphanet J Rare Dis (2015)

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

بواسطة Drivas, Theodore G., Li, Dong, Nair, Divya, Alaimo, Joseph T., Alders, Mariëlle, Altmüller, Janine, Barakat, Tahsin Stefan, Bebin, E. Martina, Bertsch, Nicole L., Blackburn, Patrick R., Blesson, Alyssa, Bouman, Arjan M., Brockmann, Knut, Brunelle, Perrine, Burmeister, Margit, Cooper, Gregory M., Denecke, Jonas, Dieux-Coëslier, Anne, Dubbs, Holly, Ferrer, Alejandro, Gal, Danna, Bartik, Lauren E., Gunderson, Lauren B., Hasadsri, Linda, Jain, Mahim, Karimov, Catherine, Keena, Beth, Klee, Eric W., Kloth, Katja, Lace, Baiba, Macchiaiolo, Marina, Marcadier, Julien L., Milunsky, Jeff M., Napier, Melanie P., Ortiz-Gonzalez, Xilma R., Pichurin, Pavel N., Pinner, Jason, Powis, Zoe, Prasad, Chitra, Radio, Francesca Clementina, Rasmussen, Kristen J., Renaud, Deborah L., Rush, Eric T., Saunders, Carol, Selcen, Duygu, Seman, Ann R., Shinde, Deepali N., Smith, Erica D., Smol, Thomas, Snijders Blok, Lot, Stoler, Joan M., Tang, Sha, Tartaglia, Marco, Thompson, Michelle L., van de Kamp, Jiddeke M., Wang, Jingmin, Weise, Dagmar, Weiss, Karin, Woitschach, Rixa, Wollnik, Bernd, Yan, Huifang, Zackai, Elaine H., Zampino, Giuseppe, Campeau, Philippe, Bhoj, Elizabeth
الحاوية / القاعدة Eur J Hum Genet (2020)