Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Laurent Guibaud"'
Autor:
Florence Petit, Fabienne Giuliano, Juliette Mazereeuw-Hautier, Marjolaine Willems, Christel Thauvin-Robinet, Patricia Blanchet, Laurence Faivre, Elodie Gautier, Anne-Claire Bursztejn, Renaud Touraine, Annick Toutain, Frederico Di Rocco, Maxime Luu, Patrick Edery, Arthur Sorlin, Jean-Luc Alessandri, Nicolas Chassaing, Alice Goldenberg, Christine Chiaverini, Fanny Morice-Picard, Aurore Garde, Stéphanie Arpin, Massimiliano Rossi, Marc Bardou, Claire Nicolas, Gilles Morin, Jenny Cornaton, Cyril Mignot, Christophe Philippe, V. Carmignac, Rodolphe Dard, Joelle Roume, Michèle Mathieu-Dramard, Philippe Khau Van Kien, Pierre Vabres, Didier Lacombe, Diane Doummar, Lucile Pinson, Christine Coubes, Laurent Guibaud, Olivia Boccara
Publikováno v:
Clinical Genetics
Clinical Genetics, Wiley, 2021, 99 (5), pp.650-661. ⟨10.1111/cge.13918⟩
Clinical Genetics, Wiley, 2021, 99 (5), pp.650-661. ⟨10.1111/cge.13918⟩
Megalencephaly-CApillary malformation-Polymicrogyria (MCAP) syndrome results from somatic mosaic gain-of-function variants in PIK3CA. Main features are macrocephaly, somatic overgrowth, cutaneous vascular malformations, connective tissue dysplasia, n
Autor:
C.E.M. de Die-Smulders, Raoul C.M. Hennekam, Audrey Putoux, Alain Verloes, Séverine Drunat, Patrick Edery, Annette Uwineza, F. Champion, A. Besson, J. Michel, Aimee D C Paulussen, Dominique Boggio, Marie-Josée Perez, Sylvie Mazoyer, W.K. van Putten, Gaetan Lesca, Isabella Borg, Y. Musizzano, Damien Sanlaville, Alexandre Vasiljevic, Amerh Alqahtani, Ferechté Razavi, Lucile Pinson, Laurent Guibaud, Eudeline Alix, Sheela Nampoothiri, Thatjana Gardeitchik
Publikováno v:
Clinical Genetics. 90:550-555
Taybi-Linder syndrome (TALS, OMIM 210710) is a rare autosomal recessive disorder belonging to the group of microcephalic osteodysplastic primordial dwarfisms (MOPD). This syndrome is characterized by short stature, skeletal anomalies, severe microcep