Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Mylène Tharreau"'
Autor:
Mylène Tharreau, Aurore Garde, Sandrine Marlin, Godelieve Morel, Sylvain Ernest, Sophie Nambot, Yannis Duffourd, Ninon Ternoy, Christian Duvillard, Siddharth Banka, Christophe Philippe, Christel Thauvin‐Robinet, Frederic Tran Mau‐Them, Laurence Faivre
Publikováno v:
Tharreau, M, Garde, A, Marlin, S, Morel, G, Ernest, S, Nambot, S, Duffourd, Y, Ternoy, N, Duvillard, C, Banka, S, Philippe, C, Thauvin-Robinet, C, Mau-Them, F T & Faivre, L 2022, ' Refining the clinical phenotype associated with missense variants in exons 38 and 39 of KMT2D ', American Journal of Medical Genetics. Part A . https://doi.org/10.1002/ajmg.a.62642
Loss-of-function variants in KMT2D are responsible for Kabuki syndrome type 1 (KS1). In the last 5 years, missense variants in exon 38 or 39 in KMT2D have been found in patients exhibiting a new phenotype with multiple malformations and absence of in
Autor:
Quentin Sabbagh, Mylène Tharreau, Camille Cenni, Elodie Sanchez, Nathalie Ruiz-Pallares, Fanny Alkar, Cyril Amouroux, Stéphanie David, Olivier Prodhomme, Nicolas Leboucq, Isabelle Meunier, Didier Bessis, Alexandre Theron, Mouna Barat-Houari, Marjolaine Willems
Publikováno v:
European Journal of Medical Genetics. 66:104733