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Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations de réir Sandra Mercier, Sébastien Küry, Emmanuelle Salort‐Campana, Armelle Magot, Uchenna Agbim, Thomas Besnard, Nathalie Bodak, Chantal Bou‐Hanna, Flora Bréhéret, Perrine Brunelle, Florence Caillon, B. Chabrol, Valérie Cormier‐Daire, Albert David, B. Eymard, Laurence Faivre, Dominique Figarella‐Branger, Emmanuelle Fleurence, Mythily Ganapathi, Romain K. Gherardi, Alice Goldenberg, Antoine Hamel, Jeanine Igual, Alan D. Irvine, Dominique Israëł-Biet, Caroline Kannengiesser, Christian Laboisse, Cédric Le Caignec, Jean-Yves Mahé, S. Mallet, Stuart A. MacGowan, Maeve A. McAleer, W.H. Irwin McLean, C. Méni, Arnold Münnich, Jean-Marie Mussini, Péter L. Nagy, Jeffrey G. Odel, Gráinne M. O’Regan, Yann Péréon, Julie Perrier, Juliette Piard, E. Puzenat, Jacinda B. Sampson, Frances J.D. Smith, Nadem Soufir, Kurenai Tanji, Christel Thauvin, Christina Ulane, Rosemarie M. Watson, Nonhlanhla P. Khumalo, Bongani M. Mayosi, S. Barbarot, Stéphane Bézieau

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Recurrent Mutations in Kindlin-1, a Novel Keratinocyte Focal Contact Protein, in the Autosomal Recessive Skin Fragility and Photosensitivity Disorder, Kindler Syndrome de réir G H S Ashton, W.H. Irwin McLean, Andrew P. South, Noritaka Oyama, Frances J.D. Smith, Raouf Al-Suwaid, Abla Al Ismaily, David J. Atherton, Catherine Harwood, Irene M. Leigh, Celia Moss, Biagio Didona, Giovanna Zambruno, Annalisa Patrizi, Robin A.J. Eady, John A. McGrath

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Kindler syndrome: Extension of FERMT1 mutational spectrum and natural history de réir Cristina Has, Daniele Castiglia, Marcela Del Río, Marta Garcia Diez, Eugenia Piccinni, Dimitra Kiritsi, Jürgen Kohlhase, Peter Itin, Ludovic Martin, Judith Fischer, Giovanna Zambruno, Leena Bruckner‐Tuderman

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HOMOLOGOUS DISEASE IN THE ADULT RAT, A MODEL FOR AUTOIMMUNE DISEASE de réir Peter Šťastný, Vernie A. Stembridge, Morris Ziff

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POIKILODERMA ATROPHICANS VASCULARE de réir John E. Lane

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Kindler syndrome: report of two cases de réir Luciana Mendes, Lisiane Nogueira, Virgínia Vilasboas, Carolina Talhari, Sinésio Talhari, Mônica Santos

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Sporadic Kindler Syndrome with a novel mutation de réir Hiram Larangeira de Almeida, Gláucia Thomas Heckler, Kenneth Fong, Joey E. Lai‐Cheong, John A. McGrath

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Mutations in FAM111B Cause Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis de réir Sandra Mercier, Sébastien Küry, Gasnat Shaboodien, Darren T. Houniet, Nonhlanhla P. Khumalo, Chantal Bou‐Hanna, Nathalie Bodak, Valérie Cormier‐Daire, Albert David, Laurence Faivre, Dominique Figarella‐Branger, Romain K. Gherardi, Elise Glen, Antoine Hamel, Christian Laboisse, Cédric Le Caignec, Pierre Lindenbaum, Armelle Magot, Arnold Münnich, Jean‐Marie Mussini, Komala Pillay, Thahira Rahman, Richard Redon, Emmanuelle Salort‐Campana, Mauro Santibanez‐Koref, Christel Thauvin, S. Barbarot, Bernard Keavney, Stéphane Bézieau, Bongani M. Mayosi

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Xeroderma Pigmentosum - A case report with oral implications de réir Camila Lopes Cardoso, LM. Ramos Fernandes, Josilene F. Rocha, Cléverson Teixeira Soares, Jaison Antônio Barreto, José Humberto Damante

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Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene de réir Lionel Van Maldergem, H. Annika Siitonen, Nadine Jalkh, Éliane Chouery, M De Roy, Valérie Delague, Maximilian Muenke, Ethylin Wang Jabs, Juanliang Cai, LL Wang, Sharon E. Plon, Catherine Fourneau, Marjo Kestilä, Y. Gillerot, André Mégarbané, Alain Verloès

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Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia Gene de réir Ludovica Volpi, Gaia Roversi, Elisa Adele Colombo, Nico Leijsten, Daniela Concolino, Andrea Calabria, Maria Antonietta Mencarelli, Michele Fimiani, Fabìo Macciardi, Rolph Pfundt, Eric Schoenmakers, Lidia Larizza

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Rothmund-Thomson syndrome de réir Lidia Larizza, Gaia Roversi, Ludovica Volpi

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Rothmund–Thomson Syndrome in Three Siblings and Development of Cutaneous Squamous Cell Carcinoma de réir Jaime Piquero‐Casals, Alexandre Y. Okubo, Marcello Menta Simonsen Nico

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Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund–Thomson syndrome de réir Amanda J. Walne, Tom Vulliamy, Richard Beswick, Michael Kirwan, Inderjeet Dokal

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Molecular Biology of The Skin de réir Seiji Arase

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Rothmund syndrome de réir Thiago Gonçalves dos Santos Martins, Ana Luiza Fontes de Azevedo Costa, Thomaz Gonçalves dos Santos Martins

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Xeroderma Pigmentosum: A Model for Human Premature Aging de réir Elizabeth R. H. Rizza, John J. DiGiovanna, Sikandar G. Khan, Deborah Tamura, Jack Jeskey, Kenneth H. Kraemer

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Você conhece esta síndrome? de réir Luciana Baptista Pereira, João Renato Vianna Gontijo

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Skin Pigmentation Abnormalities and Their Possible Relationship with Skin Aging de réir Ai‐Young Lee

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Xeroderma Pigmentosum de réir Jennifer O. Black

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