Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma by Courcet, Jean-Benoît, Elalaoui, Siham Chafai, Duplomb, Laurence, Tajir, Mariam, Rivière, Jean-Baptiste, Thevenon, Julien, Gigot, Nadège, Marle, Nathalie, Aral, Bernard, Duffourd, Yannis, Sarasin, Alain, Naim, Valeria, Courcet-Degrolard, Emilie, Aubriot-Lorton, Marie-Hélène, Martin, Laurent, Abrid, Jamal Eddin, Thauvin, Christel, Sefiani, Abdelaziz, Vabres, Pierre, Faivre, Laurence

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The identification of MAFB mutations in eight patients with multicentric carpo-tarsal osteolysis supports genetic homogeneity but clinical variability by Mehawej, Cybel, Courcet, Jean-Benoît, Baujat, Geneviève, Mouy, Richard, Gérard, Marion, Landru, Isabelle, Gosselin, Morgane, Koehrer, Philippe, Mousson, Christiane, Breton, Sylvain, Quartier, Pierre, Le Merrer, Martine, Faivre, Laurence, Cormier-Daire, Valérie

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Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations by Courcet, Jean-Benoît, Minello, Anne, Prieur, Fabienne, Morisse, Laurent, Phelip, Jean-Marc, Beurdeley, Alain, Meynard, Daniel, Massenet, Denis, Lacassin, Flore, Duffourd, Yannis, Gigot, Nadège, St-Onge, Judith, Hillon, Patrick, Vanlemmens, Claire, Mousson, Christiane, Cerceuil, Jean-Pierre, Guiu, Boris, Thevenon, Julien, Thauvin-Robinet, Christel, Jacquemin, Emmanuel, Rivière, Jean-Baptiste, Michel-Calemard, Laurence, Faivre, Laurence

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In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome by CARMIGNAC, Virginie, THEVENON, Julien, RENARD, Marjolijn, PLAUCHU, Henri, PLESSIS, Ghislaine, DE BACKER, Julie, CHILD, Anne, ARNO, Gavin, DUPLOMB, Laurence, CALLIER, Patrick, ARAL, Bernard, VABRES, Pierre, ADES, Lesley, GIGOT, Nadege, ARBUSTINI, Eloisa, GRASSO, Maurizia, ROBINSON, Peter N, GOIZET, Cyril, BAUMANN, Clarisse, DI ROCCO, Maja, DEL POZO, Jaime Sanchez, HUET, Frédéric, JONDEAU, Guillaume, CALLEWAERT, Bert, COLLOD-BEROUD, Gwenaelle, BEROUD, Christophe, AMIEL, Jeanne, CORMIER-DAIRE, Valérie, RIVIERE, Jean-Baptiste, BOILEAU, Catherine, DE PAEPE, Anne, FAIVRE, Laurence, JULIA, Sophie, THAUVIN-ROBINET, Christel, GUENEAU, Lucie, COURCET, Jean-Benoit, LOPEZ, Estelle, HOLMAN, Katherine

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Clinical and Molecular Spectrum of Renal Malformations in Kabuki Syndrome by Courcet, Jean-Benoît, MD, Faivre, Laurence, MD, PhD, Michot, Caroline, MD, Burguet, Antoine, MD, PhD, Perez-Martin, Stéphanie, MD, Alix, Eudeline, MSc, Amiel, Jeanne, MD, PhD, Baumann, Clarisse, MD, Cordier, Marie-Pierre, MD, Cormier-Daire, Valérie, MD, PhD, Delrue, Marie Ange, MD, Gilbert-Dussardier, Brigitte, MD, PhD, Goldenberg, Alice, MD, Jacquemont, Marie-Line, MD, Jaquette, Aurélia, MD, Kayirangwa, Honorine, MSc, Lacombe, Didier, MD, PhD, Le Merrer, Martine, MD, PhD, Toutain, Annick, MD, PhD, Odent, Sylvie, MD, PhD, Moncla, Anne, MD, PhD, Pelet, Anna, PhD, Philip, Nicole, MD, PhD, Pinson, Lucille, MD, Poisson, Sylvain, MSc, Kim-Han, Le Quan Sang, MD, Roume, Joelle, MD, Sanchez, Elodie, MSc, Willems, Marjolaine, MD, Till, Marianne, MD, Vincent-Delorme, Catherine, MD, Mousson, Christiane, MD, PhD, Vinault, Sandrine, MSc, Binquet, Christine, MD, PhD, Huet, Frédéric, MD, PhD, Sarda, Pierre, MD, PhD, Salomon, Rémi, MD, PhD, Lyonnet, Stanislas, MD, PhD, Sanlaville, Damien, MD, PhD, Geneviève, David, MD, PhD

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